array:24 [
  "pii" => "S2254887418301796"
  "issn" => "22548874"
  "doi" => "10.1016/j.rceng.2018.11.003"
  "estado" => "S300"
  "fechaPublicacion" => "2019-04-01"
  "aid" => "1581"
  "copyright" => "Elsevier España, S.L.U. and Sociedad Española de Medicina Interna (SEMI)"
  "copyrightAnyo" => "2018"
  "documento" => "article"
  "crossmark" => 1
  "subdocumento" => "sco"
  "cita" => "Rev Clin Esp. 2019;219:141-4"
  "abierto" => array:3 [
    "ES" => false
    "ES2" => false
    "LATM" => false
  ]
  "gratuito" => false
  "lecturas" => array:2 [
    "total" => 3
    "formatos" => array:2 [
      "HTML" => 1
      "PDF" => 2
    ]
  ]
  "Traduccion" => array:1 [
    "es" => array:19 [
      "pii" => "S0014256518302807"
      "issn" => "00142565"
      "doi" => "10.1016/j.rce.2018.09.011"
      "estado" => "S300"
      "fechaPublicacion" => "2019-04-01"
      "aid" => "1581"
      "copyright" => "Elsevier España, S.L.U. and Sociedad Española de Medicina Interna (SEMI)"
      "documento" => "article"
      "crossmark" => 1
      "subdocumento" => "sco"
      "cita" => "Rev Clin Esp. 2019;219:141-4"
      "abierto" => array:3 [
        "ES" => false
        "ES2" => false
        "LATM" => false
      ]
      "gratuito" => false
      "lecturas" => array:2 [
        "total" => 33
        "formatos" => array:2 [
          "HTML" => 15
          "PDF" => 18
        ]
      ]
      "es" => array:13 [
        "idiomaDefecto" => true
        "cabecera" => "<span class="elsevierStyleTextfn">Original Breve</span>"
        "titulo" => "Presentaci&#243;n at&#237;pica de amiloidosis por transtiretina en un &#225;rea no end&#233;mica"
        "tienePdf" => "es"
        "tieneTextoCompleto" => "es"
        "tieneResumen" => array:2 [
          0 => "es"
          1 => "en"
        ]
        "paginas" => array:1 [
          0 => array:2 [
            "paginaInicial" => "141"
            "paginaFinal" => "144"
          ]
        ]
        "titulosAlternativos" => array:1 [
          "en" => array:1 [
            "titulo" => "Atypical presentation of transthyretin amyloidosis in a non-endemic area"
          ]
        ]
        "contieneResumen" => array:2 [
          "es" => true
          "en" => true
        ]
        "contieneTextoCompleto" => array:1 [
          "es" => true
        ]
        "contienePdf" => array:1 [
          "es" => true
        ]
        "resumenGrafico" => array:2 [
          "original" => 0
          "multimedia" => array:7 [
            "identificador" => "fig0005"
            "etiqueta" => "Figura 1"
            "tipo" => "MULTIMEDIAFIGURA"
            "mostrarFloat" => true
            "mostrarDisplay" => false
            "figura" => array:1 [
              0 => array:4 [
                "imagen" => "gr1.jpeg"
                "Alto" => 568
                "Ancho" => 800
                "Tamanyo" => 27132
              ]
            ]
            "descripcion" => array:1 [
              "es" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">Familia A&#46; Madre e hijas portadoras de la variante gen&#233;tica Glu74Gln&#46;</p>"
            ]
          ]
        ]
        "autores" => array:1 [
          0 => array:2 [
            "autoresLista" => "A&#46; Gracia Guti&#233;rrez, E&#46; Bueno Juana, C&#46; Lahuerta Pueyo, S&#46; Menao Guill&#233;n, J&#46; Escota Villanueva, M&#46;&#193;&#46; Aibar Arregui"
            "autores" => array:6 [
              0 => array:2 [
                "nombre" => "A&#46;"
                "apellidos" => "Gracia Guti&#233;rrez"
              ]
              1 => array:2 [
                "nombre" => "E&#46;"
                "apellidos" => "Bueno Juana"
              ]
              2 => array:2 [
                "nombre" => "C&#46;"
                "apellidos" => "Lahuerta Pueyo"
              ]
              3 => array:2 [
                "nombre" => "S&#46;"
                "apellidos" => "Menao Guill&#233;n"
              ]
              4 => array:2 [
                "nombre" => "J&#46;"
                "apellidos" => "Escota Villanueva"
              ]
              5 => array:2 [
                "nombre" => "M&#46;&#193;&#46;"
                "apellidos" => "Aibar Arregui"
              ]
            ]
          ]
        ]
      ]
      "idiomaDefecto" => "es"
      "Traduccion" => array:1 [
        "en" => array:9 [
          "pii" => "S2254887418301796"
          "doi" => "10.1016/j.rceng.2018.11.003"
          "estado" => "S300"
          "subdocumento" => ""
          "abierto" => array:3 [
            "ES" => false
            "ES2" => false
            "LATM" => false
          ]
          "gratuito" => false
          "lecturas" => array:1 [
            "total" => 0
          ]
          "idiomaDefecto" => "en"
          "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2254887418301796?idApp=WRCEE"
        ]
      ]
      "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0014256518302807?idApp=WRCEE"
      "url" => "/00142565/0000021900000003/v1_201903280610/S0014256518302807/v1_201903280610/es/main.assets"
    ]
  ]
  "itemSiguiente" => array:19 [
    "pii" => "S2254887419300451"
    "issn" => "22548874"
    "doi" => "10.1016/j.rceng.2019.01.011"
    "estado" => "S300"
    "fechaPublicacion" => "2019-04-01"
    "aid" => "1623"
    "copyright" => "Elsevier Espa&#241;a&#44; S&#46;L&#46;U&#46; and Sociedad Espa&#241;ola de Medicina Interna &#40;SEMI&#41;"
    "documento" => "simple-article"
    "crossmark" => 1
    "subdocumento" => "edi"
    "cita" => "Rev Clin Esp. 2019;219:145-6"
    "abierto" => array:3 [
      "ES" => false
      "ES2" => false
      "LATM" => false
    ]
    "gratuito" => false
    "lecturas" => array:1 [
      "total" => 0
    ]
    "en" => array:10 [
      "idiomaDefecto" => true
      "cabecera" => "<span class="elsevierStyleTextfn">Editorial</span>"
      "titulo" => "Internists and death in the hospital"
      "tienePdf" => "en"
      "tieneTextoCompleto" => "en"
      "paginas" => array:1 [
        0 => array:2 [
          "paginaInicial" => "145"
          "paginaFinal" => "146"
        ]
      ]
      "titulosAlternativos" => array:1 [
        "es" => array:1 [
          "titulo" => "Los internistas y la muerte en el hospital"
        ]
      ]
      "contieneTextoCompleto" => array:1 [
        "en" => true
      ]
      "contienePdf" => array:1 [
        "en" => true
      ]
      "autores" => array:1 [
        0 => array:2 [
          "autoresLista" => "S&#46; Plaza Canteli, J&#46; Marco Mart&#237;nez"
          "autores" => array:2 [
            0 => array:2 [
              "nombre" => "S&#46;"
              "apellidos" => "Plaza Canteli"
            ]
            1 => array:2 [
              "nombre" => "J&#46;"
              "apellidos" => "Marco Mart&#237;nez"
            ]
          ]
        ]
      ]
    ]
    "idiomaDefecto" => "en"
    "Traduccion" => array:1 [
      "es" => array:9 [
        "pii" => "S0014256519300207"
        "doi" => "10.1016/j.rce.2019.01.002"
        "estado" => "S300"
        "subdocumento" => ""
        "abierto" => array:3 [
          "ES" => false
          "ES2" => false
          "LATM" => false
        ]
        "gratuito" => false
        "lecturas" => array:1 [
          "total" => 0
        ]
        "idiomaDefecto" => "es"
        "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0014256519300207?idApp=WRCEE"
      ]
    ]
    "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2254887419300451?idApp=WRCEE"
    "url" => "/22548874/0000021900000003/v1_201903280618/S2254887419300451/v1_201903280618/en/main.assets"
  ]
  "itemAnterior" => array:19 [
    "pii" => "S2254887419300062"
    "issn" => "22548874"
    "doi" => "10.1016/j.rceng.2018.09.007"
    "estado" => "S300"
    "fechaPublicacion" => "2019-04-01"
    "aid" => "1586"
    "copyright" => "Elsevier Espa&#241;a&#44; S&#46;L&#46;U&#46; and Sociedad Espa&#241;ola de Medicina Interna &#40;SEMI&#41;"
    "documento" => "article"
    "crossmark" => 1
    "subdocumento" => "fla"
    "cita" => "Rev Clin Esp. 2019;219:130-40"
    "abierto" => array:3 [
      "ES" => false
      "ES2" => false
      "LATM" => false
    ]
    "gratuito" => false
    "lecturas" => array:1 [
      "total" => 0
    ]
    "en" => array:12 [
      "idiomaDefecto" => true
      "cabecera" => "<span class="elsevierStyleTextfn">Original article</span>"
      "titulo" => "First hospital admission due to heart failure&#58; In-hospital mortality and patient profile"
      "tienePdf" => "en"
      "tieneTextoCompleto" => "en"
      "tieneResumen" => array:2 [
        0 => "en"
        1 => "es"
      ]
      "paginas" => array:1 [
        0 => array:2 [
          "paginaInicial" => "130"
          "paginaFinal" => "140"
        ]
      ]
      "titulosAlternativos" => array:1 [
        "es" => array:1 [
          "titulo" => "Primera hospitalizaci&#243;n por insuficiencia cardiaca&#58; mortalidad hospitalaria y perfil del paciente"
        ]
      ]
      "contieneResumen" => array:2 [
        "en" => true
        "es" => true
      ]
      "contieneTextoCompleto" => array:1 [
        "en" => true
      ]
      "contienePdf" => array:1 [
        "en" => true
      ]
      "autores" => array:1 [
        0 => array:2 [
          "autoresLista" => "J&#46; Masip, F&#46; Formiga, M&#46; Fern&#225;ndez-Casta&#241;er, P&#46; Fern&#225;ndez, J&#46; Com&#237;n-Colet, X&#46; Corbella"
          "autores" => array:6 [
            0 => array:2 [
              "nombre" => "J&#46;"
              "apellidos" => "Masip"
            ]
            1 => array:2 [
              "nombre" => "F&#46;"
              "apellidos" => "Formiga"
            ]
            2 => array:2 [
              "nombre" => "M&#46;"
              "apellidos" => "Fern&#225;ndez-Casta&#241;er"
            ]
            3 => array:2 [
              "nombre" => "P&#46;"
              "apellidos" => "Fern&#225;ndez"
            ]
            4 => array:2 [
              "nombre" => "J&#46;"
              "apellidos" => "Com&#237;n-Colet"
            ]
            5 => array:2 [
              "nombre" => "X&#46;"
              "apellidos" => "Corbella"
            ]
          ]
        ]
      ]
    ]
    "idiomaDefecto" => "en"
    "Traduccion" => array:1 [
      "es" => array:9 [
        "pii" => "S0014256518302893"
        "doi" => "10.1016/j.rce.2018.09.014"
        "estado" => "S300"
        "subdocumento" => ""
        "abierto" => array:3 [
          "ES" => false
          "ES2" => false
          "LATM" => false
        ]
        "gratuito" => false
        "lecturas" => array:1 [
          "total" => 0
        ]
        "idiomaDefecto" => "es"
        "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0014256518302893?idApp=WRCEE"
      ]
    ]
    "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2254887419300062?idApp=WRCEE"
    "url" => "/22548874/0000021900000003/v1_201903280618/S2254887419300062/v1_201903280618/en/main.assets"
  ]
  "en" => array:20 [
    "idiomaDefecto" => true
    "cabecera" => "<span class="elsevierStyleTextfn">Brief Original</span>"
    "titulo" => "Atypical presentation of transthyretin amyloidosis in a non-endemic area"
    "tieneTextoCompleto" => true
    "paginas" => array:1 [
      0 => array:2 [
        "paginaInicial" => "141"
        "paginaFinal" => "144"
      ]
    ]
    "autores" => array:1 [
      0 => array:4 [
        "autoresLista" => "A&#46; Gracia Guti&#233;rrez, E&#46; Bueno Juana, C&#46; Lahuerta Pueyo, S&#46; Menao Guill&#233;n, J&#46; Escota Villanueva, M&#46;&#193;&#46; Aibar Arregui"
        "autores" => array:6 [
          0 => array:4 [
            "nombre" => "A&#46;"
            "apellidos" => "Gracia Guti&#233;rrez"
            "email" => array:1 [
              0 => "agraciagut&#64;gmail&#46;com"
            ]
            "referencia" => array:2 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "aff0005"
              ]
              1 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">&#42;</span>"
                "identificador" => "cor0005"
              ]
            ]
          ]
          1 => array:3 [
            "nombre" => "E&#46;"
            "apellidos" => "Bueno Juana"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "aff0005"
              ]
            ]
          ]
          2 => array:3 [
            "nombre" => "C&#46;"
            "apellidos" => "Lahuerta Pueyo"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">b</span>"
                "identificador" => "aff0010"
              ]
            ]
          ]
          3 => array:3 [
            "nombre" => "S&#46;"
            "apellidos" => "Menao Guill&#233;n"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">b</span>"
                "identificador" => "aff0010"
              ]
            ]
          ]
          4 => array:3 [
            "nombre" => "J&#46;"
            "apellidos" => "Escota Villanueva"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">c</span>"
                "identificador" => "aff0015"
              ]
            ]
          ]
          5 => array:3 [
            "nombre" => "M&#46;&#193;&#46;"
            "apellidos" => "Aibar Arregui"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "aff0005"
              ]
            ]
          ]
        ]
        "afiliaciones" => array:3 [
          0 => array:3 [
            "entidad" => "Departamento de Medicina Interna&#44; Hospital Cl&#237;nico Universitario Lozano Blesa&#44; Zaragoza&#44; Spain"
            "etiqueta" => "a"
            "identificador" => "aff0005"
          ]
          1 => array:3 [
            "entidad" => "Departamento de Bioqu&#237;mica Cl&#237;nica y Patolog&#237;a Molecular&#44; Hospital Cl&#237;nico Universitario Lozano Blesa&#44; Zaragoza&#44; Spain"
            "etiqueta" => "b"
            "identificador" => "aff0010"
          ]
          2 => array:3 [
            "entidad" => "Departamento de Cardiolog&#237;a&#44; Hospital Cl&#237;nico Universitario Lozano Blesa&#44; ISS-Arag&#243;n&#44; Zaragoza&#44; Spain"
            "etiqueta" => "c"
            "identificador" => "aff0015"
          ]
        ]
        "correspondencia" => array:1 [
          0 => array:3 [
            "identificador" => "cor0005"
            "etiqueta" => "&#8270;"
            "correspondencia" => "Corresponding author&#46;"
          ]
        ]
      ]
    ]
    "titulosAlternativos" => array:1 [
      "es" => array:1 [
        "titulo" => "Presentaci&#243;n at&#237;pica de amiloidosis por transtiretina en un &#225;rea no end&#233;mica"
      ]
    ]
    "resumenGrafico" => array:2 [
      "original" => 0
      "multimedia" => array:7 [
        "identificador" => "fig0005"
        "etiqueta" => "Figure 1"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
          0 => array:4 [
            "imagen" => "gr1.jpeg"
            "Alto" => 568
            "Ancho" => 800
            "Tamanyo" => 27132
          ]
        ]
        "descripcion" => array:1 [
          "en" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">Family A&#46; Mother and daughter carriers of the genetic variant Glu74Gln&#46;</p>"
        ]
      ]
    ]
    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">Background</span><p id="par0005" class="elsevierStylePara elsevierViewall">Systemic amyloidoses are diseases characterized by the extracellular deposit of amyloid material&#46;<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">1</span></a> The most common types of amyloidosis are the primary type or AL&#44; the secondary type or AA and transthyretin amyloidosis &#40;ATTR&#41;&#46;<a class="elsevierStyleCrossRefs" href="#bib0085"><span class="elsevierStyleSup">1&#44;2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Transthyretin &#40;TTR&#41; is the carrier protein of thyroxine and retinol<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">3</span></a> and has a natural tendency to form amyloid fibrils that are then deposited&#44; causing cell damage and toxicity&#46;<a class="elsevierStyleCrossRefs" href="#bib0100"><span class="elsevierStyleSup">4&#44;5</span></a> There are 2 types of TTR amyloidosis&#58; a senile variant or wild-type ATTR &#40;wt-ATTR&#41; and another resulting from pathogenic variants of the TTR gene &#40;m-ATTR&#41; of which approximately 100 pathogenic variants have been described&#46;<a class="elsevierStyleCrossRefs" href="#bib0085"><span class="elsevierStyleSup">1&#44;3&#44;6&#8211;8</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">M-ATTR is a progressive and fatal disease&#44; with considerable variability in the clinical manifestations&#44; which are predominantly neurological &#40;in the form of sensory-motor neuropathy&#41; and cardiac &#40;in the form of cardiomyopathy&#41;&#46; This variability depends on the genetic variant&#44; transmitted in an autosomal dominant manner with variable phenotypic penetrance&#44; and on factors such as the geographical area&#44; leading to significant difficulty in its diagnosis&#46;<a class="elsevierStyleCrossRefs" href="#bib0095"><span class="elsevierStyleSup">3&#44;5&#44;7&#44;9&#44;10</span></a></p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0070">Materials and methods</span><p id="par0020" class="elsevierStylePara elsevierViewall">We selected 63 patients with suspected TTR amyloidosis in the University Clinic Hospital of Zaragoza&#44; treated in the internal medicine and cardiology departments between May 1&#44; 2016 and June 30&#44; 2017&#46; The study was authorized by the Clinical Research Ethics Committee of Aragon &#40;CEICA&#41;&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">Inclusion criteria&#58;<ul class="elsevierStyleList" id="lis0005"><li class="elsevierStyleListItem" id="lsti0005"><span class="elsevierStyleLabel">-</span><p id="par0030" class="elsevierStylePara elsevierViewall">Heart failure with preserved ejection fraction with no history of valvular heart disease or arterial hypertension&#46;</p></li><li class="elsevierStyleListItem" id="lsti0010"><span class="elsevierStyleLabel">-</span><p id="par0035" class="elsevierStylePara elsevierViewall">History of dysautonomia or bilateral carpel tunnel syndrome &#40;CTS&#41;&#46;</p></li><li class="elsevierStyleListItem" id="lsti0015"><span class="elsevierStyleLabel">-</span><p id="par0040" class="elsevierStylePara elsevierViewall">Polyneuropathy of unknown etiology&#46;</p></li><li class="elsevierStyleListItem" id="lsti0020"><span class="elsevierStyleLabel">-</span><p id="par0045" class="elsevierStylePara elsevierViewall">Imaging tests consistent with amyloidosis&#58; scintigraphy &#40;uptake of 99mTc-DPD in the heart&#41;&#44; echocardiogram &#40;thickening of the left ventricular free wall &#91;&#62;12<span class="elsevierStyleHsp" style=""></span>mm&#93; or of the septum &#91;&#62;13<span class="elsevierStyleHsp" style=""></span>mm&#93; and&#47;or granular pattern&#41;&#44; cardiac magnetic resonance imaging &#40;MRI&#41; &#40;late gadolinium enhancement&#41;&#46;</p></li><li class="elsevierStyleListItem" id="lsti0025"><span class="elsevierStyleLabel">-</span><p id="par0050" class="elsevierStylePara elsevierViewall">Electroneurography&#47;electromyography compatible with familial amyloid polyneuropathy&#46;</p></li><li class="elsevierStyleListItem" id="lsti0030"><span class="elsevierStyleLabel">-</span><p id="par0055" class="elsevierStylePara elsevierViewall">History of amyloidosis of unknown origin&#46;</p></li></ul></p><p id="par0060" class="elsevierStylePara elsevierViewall">Exclusion criteria&#58;<ul class="elsevierStyleList" id="lis0010"><li class="elsevierStyleListItem" id="lsti0035"><span class="elsevierStyleLabel">-</span><p id="par0065" class="elsevierStylePara elsevierViewall">Underage patients&#46;</p></li><li class="elsevierStyleListItem" id="lsti0040"><span class="elsevierStyleLabel">-</span><p id="par0070" class="elsevierStylePara elsevierViewall">Patient refusal&#46;</p></li></ul></p><p id="par0075" class="elsevierStylePara elsevierViewall">We included patients who met 2 or more criteria to obtain a sample with a high probability of ATTR&#46; Once the patients were selected&#44; they were informed about the study and asked for their appropriate consent&#46; They then underwent a genetic study using Sanger sequencing&#46; First-degree relatives of those patients with positive results were offered the option of a study&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0075">Results</span><p id="par0080" class="elsevierStylePara elsevierViewall">We studied 63 patients&#44; half of whom were male&#44; with a mean age of 73&#46;08 &#40;&#177;17&#46;8&#41; years&#44; and 95&#37; were Spanish&#46; The symptoms presented at diagnosis were predominantly cardiac &#40;dyspnea&#44; chest pain and edema&#41; and neurological &#40;paresthesia and muscle weakness&#41;&#46; There were 7 cases positive for m-ATTR distributed among 3 families and 3 polymorphisms not associated with disease&#46;</p><p id="par0085" class="elsevierStylePara elsevierViewall">The 3 cases with genetic variants of TTR are described below&#46;</p><p id="par0090" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">Family A</span>&#46; Genetic variant Glu74Gln &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; A 43-year-old woman from Romania&#44; with no family history but with a history of bilateral CTS who was admitted for decompensated heart failure &#40;HF&#41;&#46; During her hospitalization&#44; the patient underwent numerous additional tests&#44; which revealed restrictive cardiomyopathy in the echocardiogram and suspected amyloidosis in the cardiac MRI&#46; The genetic study found the genetic variant Glu74Gln&#46; While on the waiting list for a heart and liver transplant&#44; the patient died after experiencing a massive ischemic stroke&#46; Genetic counseling was provided to her 2 children&#44; a healthy male and a daughter who carried the same genetic variant in heterozygosity&#46; The daughter is currently asymptomatic and in follow-up in internal medicine consultations&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0095" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">Family B&#46;</span> Genetic variant Val142Ile&#44; in heterozygosity &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; An 86-year-old Spanish woman&#44; with no family history but with a history of arterial hypertension &#40;AHT&#41;&#44; atrial fibrillation and HF&#44; was admitted for symptoms of decompensated HF&#46; Tests revealed symmetrical ventricular hypertrophy suggestive of senile amyloidosis&#46; The results of a monoclonal gammopathy study were negative&#44; NT-proBNP levels were high&#44; and fine-needle aspiration cytology of abdominal fat was negative&#46; Scintigraphy was not performed&#46; A genetic study was requested&#44; which showed the genetic variant Val142Ile&#46; The patient&#39;s 90-year-old sister was also examined&#46; The sister had a history of AHT&#44; HF and macular degeneration and was admitted for syncope secondary to a complete atrioventricular block&#46; The echocardiogram revealed moderate valvular heart disease and preserved ejection fraction&#46; Neither scintigraphy nor biopsy was performed on the sister&#46; The genetic study detected the same variant as in her sister&#44; Val142Ile&#46; The genetic study was performed on the rest of the family&#44; detecting the same genetic variant in a 42-year-old nephew&#44; who was asymptomatic&#46; The results of additional tests on the nephew showed normal values&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0100" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">Family C&#46;</span> Genetic variant Val142Ile&#44; in homozygosity &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; A 59-year-old Ghanaian woman&#44; with a medical history of AHT&#44; type 2 DM&#44; dyslipidemia&#44; lacunar stroke without sequela&#44; chronic pulmonary thromboembolism and pulmonary fibrosis and user of home oxygen therapy&#46; The echocardiogram revealed infiltrative cardiomyopathy with severe concentric hypertrophy&#44; preserved systolic function&#44; restrictive filling pattern and severe pulmonary hypertension&#46; The cardiac MRI suggested cardiac amyloidosis as the first option&#46; The patient presented dyspnea &#40;New York Heart Association functional class II-III&#41;&#46; Myocardial scintigraphy revealed intense uptake in both ventricles&#46; The results of the fine-needle aspiration cytology of subcutaneous fat were negative&#44; and a genetic study was positive for ATTR due to the genetic variant Val142Ile in homozygosity&#46; The patient&#39;s daughter underwent the genetic study&#44; which revealed that the daughter carried the same pathogenic variant&#46; Two of the patient&#39;s nieces underwent the test with negative results&#46; We assume that the parents of the index case were carriers of the genetic variant due to the involvement in homozygosity of the index case&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0080">Discussion</span><p id="par0105" class="elsevierStylePara elsevierViewall">We present the pathogenic variants of 3 families with compatible symptoms and positive genetic study results for amyloidogenic variants&#46; The Zaragoza area &#40;Aragon&#41; is a nonendemic area for m-ATTR&#46; This sample is obviously highly selected&#44; and the results of this study cannot therefore be extrapolated to the general population&#46; The study should also not be viewed as a prevalence study&#46; However&#44; the presence of 3 cases of a rare disease in a sample of only 63 patients has a certain value and suggests we are faced with an underdiagnosed disease&#46;</p><p id="par0110" class="elsevierStylePara elsevierViewall">The first family presented the pathogenic variant Glu74Gln&#44; whose initial involvement is usually CTS&#44; with subsequently cardiac manifestations&#46;<a class="elsevierStyleCrossRef" href="#bib0135"><span class="elsevierStyleSup">11</span></a> This genetic variant has been described in 2 Romanian individuals&#44; as well as in our index case&#46;<a class="elsevierStyleCrossRef" href="#bib0135"><span class="elsevierStyleSup">11</span></a> These data suggest that there are clusters in regions considered nonendemic&#44; from which we have no data&#46;</p><p id="par0115" class="elsevierStylePara elsevierViewall">The other 2 families presented the pathogenic variant Val142Ile&#44; one in heterozygosity and the other in homozygosity&#46; As described in the literature&#44; this genetic variant is the most common in the US &#40;23&#37;&#41;&#44; especially in individuals of African-American descent&#44; and is rare in other ethnic groups&#46;<a class="elsevierStyleCrossRef" href="#bib0110"><span class="elsevierStyleSup">6</span></a> The frequency of this variant in the white and Hispanic population in the US is 0&#46;44&#37; and 0&#37;&#44; respectively&#46;<a class="elsevierStyleCrossRef" href="#bib0125"><span class="elsevierStyleSup">9</span></a> In our population&#44; the first family described is Spanish&#44; and the second was Ghanaian&#44; which shows that cases can occur in nonendemic areas&#44; native and imported&#46;</p><p id="par0120" class="elsevierStylePara elsevierViewall">The Val142Ile allele generally presents in heterozygosity and with cardiac symptoms&#46;<a class="elsevierStyleCrossRefs" href="#bib0105"><span class="elsevierStyleSup">5&#44;6</span></a> Our 2 families started with cardiac impairment and&#44; in the homozygous patient&#44; with pulmonary involvement categorized as &#8220;fibrosis&#8221;&#44; which we have not been able to confirm due to the negative results of the lung biopsy&#46; Pulmonary involvement in m-ATTR consists mainly of diffuse alveolar septal amyloidosis&#44; which can be confused with pulmonary fibrosis if amyloid deposits are not specifically searched for&#46;<a class="elsevierStyleCrossRef" href="#bib0140"><span class="elsevierStyleSup">12</span></a></p><p id="par0125" class="elsevierStylePara elsevierViewall">In our series&#44; 2 families presented with the variant Val142Ile&#44; one of the patients in homozygosity and the others in heterozygosity&#46; Although not the rule&#44; homozygous cases typically develop symptoms approximately 10 years before heterozygous cases&#46;<a class="elsevierStyleCrossRefs" href="#bib0145"><span class="elsevierStyleSup">13&#44;14</span></a></p><p id="par0130" class="elsevierStylePara elsevierViewall">Certain gene variants are characterized by their strong genotype&#47;phenotype correlation and are associated with predominantly neurological &#40;Val50Met&#41;&#44; cardiac &#40;Val142Ile&#41; or mixed &#40;Thr80Ala&#41; disease&#46;<a class="elsevierStyleCrossRef" href="#bib0155"><span class="elsevierStyleSup">15</span></a> Nevertheless&#44; this disease has a considerable phenotypic variability&#44; which impedes its diagnosis&#46;<a class="elsevierStyleCrossRefs" href="#bib0155"><span class="elsevierStyleSup">15&#44;16</span></a></p><p id="par0135" class="elsevierStylePara elsevierViewall">This difficulty is greater in nonendemic areas and in atypical cases&#44; such as the ones we presented&#46;</p><p id="par0140" class="elsevierStylePara elsevierViewall">The first case is significant due to its rare and imported variant&#46; The second case stands out for being a variant with homozygous involvement and with possible pulmonary involvement&#46; The third case is important for being diagnosed in a native family from a nonendemic area affected by a pathogenic variant almost exclusively of the African-American population&#46;</p><p id="par0145" class="elsevierStylePara elsevierViewall">This study highlights the need to include ATTR in our differential diagnosis of diseases as common as peripheral neuropathy and heart failure with preserved ejection fraction&#44; especially in young patients with no clear etiology&#46;</p><p id="par0150" class="elsevierStylePara elsevierViewall">Our study&#39;s limitations include the small sample size&#44; due to the fact that we decided to require 2 inclusion criteria from the patients&#44; which increased the possibility of recruiting positive patients&#59; however&#44; just one of the previously mentioned criteria would have been sufficient to include them in the differential diagnosis of ATTR&#46;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0085">Conclusions</span><p id="par0155" class="elsevierStylePara elsevierViewall">ATTR is a rare disease that manifests mainly in endemic areas but can appear in any population&#44; both in native and immigrant patients&#46; Maintaining a high index of suspicion is essential for initiating the appropriate diagnostic methods for an early diagnosis of the disease&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0090">Funding</span><p id="par0160" class="elsevierStylePara elsevierViewall">The present study was partially funded by <span class="elsevierStyleGrantSponsor" id="gs1">Pfizer</span>&#46;</p></span></span>"
    "textoCompletoSecciones" => array:1 [
      "secciones" => array:11 [
        0 => array:3 [
          "identificador" => "xres1171506"
          "titulo" => "Abstract"
          "secciones" => array:4 [
            0 => array:2 [
              "identificador" => "abst0005"
              "titulo" => "Background and objective"
            ]
            1 => array:2 [
              "identificador" => "abst0010"
              "titulo" => "Material and methods"
            ]
            2 => array:2 [
              "identificador" => "abst0015"
              "titulo" => "Results"
            ]
            3 => array:2 [
              "identificador" => "abst0020"
              "titulo" => "Conclusions"
            ]
          ]
        ]
        1 => array:2 [
          "identificador" => "xpalclavsec1095905"
          "titulo" => "Keywords"
        ]
        2 => array:3 [
          "identificador" => "xres1171505"
          "titulo" => "Resumen"
          "secciones" => array:4 [
            0 => array:2 [
              "identificador" => "abst0025"
              "titulo" => "Antecedente y objetivo"
            ]
            1 => array:2 [
              "identificador" => "abst0030"
              "titulo" => "Material y m&#233;todos"
            ]
            2 => array:2 [
              "identificador" => "abst0035"
              "titulo" => "Resultados"
            ]
            3 => array:2 [
              "identificador" => "abst0040"
              "titulo" => "Conclusiones"
            ]
          ]
        ]
        3 => array:2 [
          "identificador" => "xpalclavsec1095906"
          "titulo" => "Palabras clave"
        ]
        4 => array:2 [
          "identificador" => "sec0005"
          "titulo" => "Background"
        ]
        5 => array:2 [
          "identificador" => "sec0010"
          "titulo" => "Materials and methods"
        ]
        6 => array:2 [
          "identificador" => "sec0015"
          "titulo" => "Results"
        ]
        7 => array:2 [
          "identificador" => "sec0020"
          "titulo" => "Discussion"
        ]
        8 => array:2 [
          "identificador" => "sec0025"
          "titulo" => "Conclusions"
        ]
        9 => array:2 [
          "identificador" => "sec0030"
          "titulo" => "Funding"
        ]
        10 => array:1 [
          "titulo" => "References"
        ]
      ]
    ]
    "pdfFichero" => "main.pdf"
    "tienePdf" => true
    "fechaRecibido" => "2018-07-20"
    "fechaAceptado" => "2018-09-17"
    "PalabrasClave" => array:2 [
      "en" => array:1 [
        0 => array:4 [
          "clase" => "keyword"
          "titulo" => "Keywords"
          "identificador" => "xpalclavsec1095905"
          "palabras" => array:5 [
            0 => "Hereditary amyloidosis"
            1 => "Transthyretin"
            2 => "Cardiomyopathy"
            3 => "Polyneuropathy"
            4 => "Heterogeneous disease"
          ]
        ]
      ]
      "es" => array:1 [
        0 => array:4 [
          "clase" => "keyword"
          "titulo" => "Palabras clave"
          "identificador" => "xpalclavsec1095906"
          "palabras" => array:5 [
            0 => "Amiloidosis hereditaria"
            1 => "Transtiretina"
            2 => "Miocardiopat&#237;a"
            3 => "Polineuropat&#237;a"
            4 => "Enfermedad heterog&#233;nea"
          ]
        ]
      ]
    ]
    "tieneResumen" => true
    "resumen" => array:2 [
      "en" => array:3 [
        "titulo" => "Abstract"
        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Background and objective</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">There are 2 types of amyloidosis caused by transthyretin deposits&#58; the wild type &#40;wt-ATTR&#41; and the mutant type &#40;m-ATTR&#41;&#44; transmitted by autosomal dominant inheritance with variable penetrance&#44; manifesting with neurological and&#47;or cardiac symptoms&#46; We report on 3 families affected by m-ATTR diagnosed in a nonendemic area&#46;</p></span> <span id="abst0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Material and methods</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">We studied 63 patients with a high suspicion of ATTR&#46; The diagnosis was subsequently performed by magnification through polymerase chain reaction of DNA&#46; For the positive cases&#44; we studied the first-degree relatives&#46;</p></span> <span id="abst0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Results</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">We detected 7 positive cases of m-ATTR&#44; distributed among 3 families &#40;Glu74Gln&#44; Val142Ile in heterozygosity and Val142Ile in homozygosity&#41;&#44; and 3 cases of nonpathogenic variants&#46;</p></span> <span id="abst0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Conclusions</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Hereditary ATTR is a rare disease but is present in nonendemic areas and should therefore be considered in the differential diagnosis of patients with polyneuropathy and&#47;or heart failure with preserved ejection fraction&#46;</p></span>"
        "secciones" => array:4 [
          0 => array:2 [
            "identificador" => "abst0005"
            "titulo" => "Background and objective"
          ]
          1 => array:2 [
            "identificador" => "abst0010"
            "titulo" => "Material and methods"
          ]
          2 => array:2 [
            "identificador" => "abst0015"
            "titulo" => "Results"
          ]
          3 => array:2 [
            "identificador" => "abst0020"
            "titulo" => "Conclusions"
          ]
        ]
      ]
      "es" => array:3 [
        "titulo" => "Resumen"
        "resumen" => "<span id="abst0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Antecedente y objetivo</span><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Existen 2 tipos de amiloidosis producidas por dep&#243;sitos de transtiretina&#44; el tipo salvaje &#40;wt-ATTR&#41; y el tipo mutante &#40;m-ATTR&#41;&#44; transmitido por herencia autos&#243;mica dominante con penetrancia variable&#44; manifest&#225;ndose con cl&#237;nica neurol&#243;gica y&#47;o card&#237;aca&#46; Describimos 3 familias afectadas por m-ATTR diagnosticadas en un &#225;rea no end&#233;mica&#46;</p></span> <span id="abst0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Material y m&#233;todos</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Se estudiaron 63 pacientes con alta sospecha de amiloidosis TTR&#46; Posteriormente&#44; el diagn&#243;stico se realiz&#243; por amplificaci&#243;n mediante PCR de ADN y en los casos positivos se estudiaron a los familiares de primer grado&#46;</p></span> <span id="abst0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Resultados</span><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Se detectaron 7 casos positivos para m-ATTR&#44; distribuidos en 3 familias &#40;Glu74Gln&#44; Val142Ile en heterocigosis y Val142Ile en homocigosis&#41; y 3 casos de variantes no patog&#233;nicas&#46;</p></span> <span id="abst0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Conclusiones</span><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">La amiloidosis hereditaria por TTR es una enfermedad rara&#44; pero presente en &#225;reas no end&#233;micas&#44; por lo que debe tenerse en cuenta en el diagn&#243;stico diferencial de los pacientes con polineuropat&#237;a y&#47;o insuficiencia cardiaca con fracci&#243;n de eyecci&#243;n preservada&#46;</p></span>"
        "secciones" => array:4 [
          0 => array:2 [
            "identificador" => "abst0025"
            "titulo" => "Antecedente y objetivo"
          ]
          1 => array:2 [
            "identificador" => "abst0030"
            "titulo" => "Material y m&#233;todos"
          ]
          2 => array:2 [
            "identificador" => "abst0035"
            "titulo" => "Resultados"
          ]
          3 => array:2 [
            "identificador" => "abst0040"
            "titulo" => "Conclusiones"
          ]
        ]
      ]
    ]
    "NotaPie" => array:1 [
      0 => array:2 [
        "etiqueta" => "&#9734;"
        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; Gracia Guti&#233;rrez A&#44; Bueno Juana E&#44; Lahuerta Pueyo C&#44; Menao Guill&#233;n S&#44; Escota Villanueva J&#44; Aibar Arregui M&#193;&#46; Presentaci&#243;n at&#237;pica de amiloidosis por transtiretina en un &#225;rea no end&#233;mica&#46; Rev Clin Esp&#46; 2019&#59;219&#58;141&#8211;144&#46;</p>"
      ]
    ]
    "multimedia" => array:2 [
      0 => array:7 [
        "identificador" => "fig0005"
        "etiqueta" => "Figure 1"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
          0 => array:4 [
            "imagen" => "gr1.jpeg"
            "Alto" => 568
            "Ancho" => 800
            "Tamanyo" => 27132
          ]
        ]
        "descripcion" => array:1 [
          "en" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">Family A&#46; Mother and daughter carriers of the genetic variant Glu74Gln&#46;</p>"
        ]
      ]
      1 => array:7 [
        "identificador" => "fig0010"
        "etiqueta" => "Figure 2"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
          0 => array:4 [
            "imagen" => "gr2.jpeg"
            "Alto" => 1087
            "Ancho" => 1200
            "Tamanyo" => 83333
          ]
        ]
        "descripcion" => array:1 [
          "en" => "<p id="spar0050" class="elsevierStyleSimplePara elsevierViewall">Family B&#46; Sisters and nephew carriers of the genetic variant Val142Ile&#46; Family C&#46; Mother with the genetic variant Val142Ile in homozygous form&#46; Daughter carrier of the same genetic variant&#46;</p>"
        ]
      ]
    ]
    "bibliografia" => array:2 [
      "titulo" => "References"
      "seccion" => array:1 [
        0 => array:2 [
          "identificador" => "bibs0015"
          "bibliografiaReferencia" => array:16 [
            0 => array:3 [
              "identificador" => "bib0085"
              "etiqueta" => "1"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Systemic amyloidosis"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [
                            0 => "A&#46; Wechalekar"
                            1 => "J&#46; Gilmore"
                            2 => "P&#46; Hawkins"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/S0140-6736(15)01274-X"
                      "Revista" => array:6 [
                        "tituloSerie" => "Lancet"
                        "fecha" => "2016"
                        "volumen" => "387"
                        "paginaInicial" => "2641"
                        "paginaFinal" => "2654"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/26719234"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            1 => array:3 [
              "identificador" => "bib0090"
              "etiqueta" => "2"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Amyloid fibril proteins and amyloidosis&#58; chemical identification and clinical classification international society of amyloidosis 2016 nomenclature guidelines"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "J&#46; Sipe"
                            1 => "M&#46; Benson"
                            2 => "J&#46; Buxbaum"
                            3 => "S&#46; Ikeda"
                            4 => "G&#46; Merlini"
                            5 => "M&#46; Saraiva"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1080/13506129.2016.1257986"
                      "Revista" => array:6 [
                        "tituloSerie" => "Amyloid"
                        "fecha" => "2016"
                        "volumen" => "23"
                        "paginaInicial" => "209"
                        "paginaFinal" => "213"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/27884064"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            2 => array:3 [
              "identificador" => "bib0095"
              "etiqueta" => "3"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Cardiac transthyretin amyloidosis"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:4 [
                            0 => "J&#46;N&#46; Dungu"
                            1 => "L&#46;J&#46; Anderson"
                            2 => "C&#46;J&#46; Whelan"
                            3 => "P&#46;N&#46; Hawkins"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1136/heartjnl-2012-301924"
                      "Revista" => array:6 [
                        "tituloSerie" => "Heart"
                        "fecha" => "2012"
                        "volumen" => "98"
                        "paginaInicial" => "1546"
                        "paginaFinal" => "1554"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/22888163"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            3 => array:3 [
              "identificador" => "bib0100"
              "etiqueta" => "4"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Diagnosis&#44; prognosis and therapy of transthyretin amyloidosis"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "M&#46;A&#46; Gertz"
                            1 => "M&#46;D&#46; Benson"
                            2 => "P&#46;J&#46; Dyck"
                            3 => "M&#46; Grogan"
                            4 => "T&#46; Coelho"
                            5 => "M&#46; Cruz"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.jacc.2015.09.075"
                      "Revista" => array:7 [
                        "tituloSerie" => "JACC"
                        "fecha" => "2015"
                        "volumen" => "66"
                        "paginaInicial" => "2451"
                        "paginaFinal" => "2466"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/26610878"
                            "web" => "Medline"
                          ]
                        ]
                        "itemHostRev" => array:3 [
                          "pii" => "S2213219818302897"
                          "estado" => "S300"
                          "issn" => "22132198"
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            4 => array:3 [
              "identificador" => "bib0105"
              "etiqueta" => "5"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Transthyretin amyloidosis&#58; an under-recognized neuropathy and cardiomyopathy"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:4 [
                            0 => "N&#46; Galant"
                            1 => "P&#46; Westermark"
                            2 => "J&#46; Higaki"
                            3 => "Chakrabartty"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1042/CS20160413"
                      "Revista" => array:6 [
                        "tituloSerie" => "Clin Sci"
                        "fecha" => "2017"
                        "volumen" => "131"
                        "paginaInicial" => "395"
                        "paginaFinal" => "409"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/28213611"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            5 => array:3 [
              "identificador" => "bib0110"
              "etiqueta" => "6"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Transthyretin cardiac amyloidosis&#58; pathogenesis&#44; treatments&#44; and emerging role in heart failure with preserved ejection fraction"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [
                            0 => "V&#46;K&#46; Ton"
                            1 => "M&#46; Mukherjee"
                            2 => "D&#46;P&#46; Judge"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.4137/CMC.S15719"
                      "Revista" => array:6 [
                        "tituloSerie" => "Clin Med Insights Cardiol"
                        "fecha" => "2015"
                        "volumen" => "8"
                        "paginaInicial" => "39"
                        "paginaFinal" => "44"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/25628512"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            6 => array:3 [
              "identificador" => "bib0115"
              "etiqueta" => "7"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "One mutation&#44; two distinct disease variants&#58; unravelling the impact of transthyretin amyloid fibril composition"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [
                            0 => "O&#46; Suhr"
                            1 => "E&#46; Lundgren"
                            2 => "P&#46; Westermark"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1111/joim.12585"
                      "Revista" => array:7 [
                        "tituloSerie" => "J Intern Med"
                        "fecha" => "2017"
                        "volumen" => "281"
                        "paginaInicial" => "337"
                        "paginaFinal" => "347"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/28093848"
                            "web" => "Medline"
                          ]
                        ]
                        "itemHostRev" => array:3 [
                          "pii" => "S0091674909027341"
                          "estado" => "S300"
                          "issn" => "00916749"
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            7 => array:3 [
              "identificador" => "bib0120"
              "etiqueta" => "8"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "The prevalence and management of systemic amyloidosis in western countries"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [
                            0 => "H&#46; Nienhuis"
                            1 => "J&#46; Bijzet"
                            2 => "B&#46; Hazenberg"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Kidney Dis"
                        "fecha" => "2016"
                        "volumen" => "2"
                        "paginaInicial" => "1"
                        "paginaFinal" => "9"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            8 => array:3 [
              "identificador" => "bib0125"
              "etiqueta" => "9"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Guideline of transthyretin-related hereditary amyloidosis for clinicians"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "Y&#46; Ando"
                            1 => "T&#46; Coelho"
                            2 => "J&#46; Berk"
                            3 => "M&#46; Waddington"
                            4 => "B&#46; Ericzon"
                            5 => "S&#46; Ikeda"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:4 [
                        "tituloSerie" => "J Rare Dis"
                        "fecha" => "2013"
                        "volumen" => "8"
                        "paginaInicial" => "31"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            9 => array:3 [
              "identificador" => "bib0130"
              "etiqueta" => "10"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Current concepts of cardiac amyloidosis&#46; Diagnosis&#44; clinical management&#44; and the need for collaboration"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:6 [
                            0 => "A&#46; Ritts"
                            1 => "R&#46; Cornell"
                            2 => "K&#46; Swiger"
                            3 => "J&#46; Singh"
                            4 => "S&#46; Goodman"
                            5 => "D&#46;J&#46; Lenihan"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Heart Failure Clin"
                        "fecha" => "2017"
                        "volumen" => "13"
                        "paginaInicial" => "409"
                        "paginaFinal" => "416"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            10 => array:3 [
              "identificador" => "bib0135"
              "etiqueta" => "11"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Amiloidosis card&#237;aca secundaria a la mutaci&#243;n familiar Glu54Gln del gen de la transtiretina"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:5 [
                            0 => "I&#46; Torres-Courchoud"
                            1 => "R&#46; Mart&#237;nez-Gil"
                            2 => "M&#46;A&#46; Aibar-Arregui"
                            3 => "A&#46; Andr&#233;s-Gracia"
                            4 => "M&#46;A&#46; Torralba-Cabeza"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.rec.2016.07.001"
                      "Revista" => array:6 [
                        "tituloSerie" => "Rev Esp Cardiol"
                        "fecha" => "2017"
                        "volumen" => "70"
                        "paginaInicial" => "297"
                        "paginaFinal" => "299"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/27519456"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            11 => array:3 [
              "identificador" => "bib0140"
              "etiqueta" => "12"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Amyloidosis of the lung"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [
                            0 => "A&#46; Khoor"
                            1 => "T&#46; Colby"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.5858/arpa.2016-0102-RA"
                      "Revista" => array:6 [
                        "tituloSerie" => "Arch Pathol Lab Med"
                        "fecha" => "2017"
                        "volumen" => "141"
                        "paginaInicial" => "247"
                        "paginaFinal" => "254"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/28134587"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            12 => array:3 [
              "identificador" => "bib0145"
              "etiqueta" => "13"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Transthyretin V122I &#40;pV142I&#41;&#42; cardiac amyloidosis&#58; an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [
                            0 => "J&#46;N&#46; Buxbaum"
                            1 => "F&#46;L&#46; Ruberg"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1038/gim.2016.200"
                      "Revista" => array:6 [
                        "tituloSerie" => "Genet Med"
                        "fecha" => "2017"
                        "volumen" => "19"
                        "paginaInicial" => "733"
                        "paginaFinal" => "742"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/28102864"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            13 => array:3 [
              "identificador" => "bib0150"
              "etiqueta" => "14"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "H&#46; Reddi"
                            1 => "S&#46; Jenkins"
                            2 => "J&#46; Theis"
                            3 => "B&#46; Thomas"
                            4 => "L&#46;H&#46; Connors"
                            5 => "F&#46; Van Rhee"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.jmoldx.2013.08.001"
                      "Revista" => array:6 [
                        "tituloSerie" => "J Mol Diagn"
                        "fecha" => "2014"
                        "volumen" => "16"
                        "paginaInicial" => "68"
                        "paginaFinal" => "74"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/24184229"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            14 => array:3 [
              "identificador" => "bib0155"
              "etiqueta" => "15"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Non-biopsy diagnosis of cardiac transthyretin amyloidosis"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "J&#46; Gillmore"
                            1 => "M&#46; Maurer"
                            2 => "R&#46; Falk"
                            3 => "G&#46; Merlini"
                            4 => "T&#46; Damy"
                            5 => "A&#46; Dispenzieri"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1161/CIRCULATIONAHA.116.021612"
                      "Revista" => array:7 [
                        "tituloSerie" => "Circulation"
                        "fecha" => "2016"
                        "volumen" => "133"
                        "paginaInicial" => "2404"
                        "paginaFinal" => "2412"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/27143678"
                            "web" => "Medline"
                          ]
                        ]
                        "itemHostRev" => array:3 [
                          "pii" => "S0007091218303180"
                          "estado" => "S300"
                          "issn" => "00070912"
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            15 => array:3 [
              "identificador" => "bib0160"
              "etiqueta" => "16"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Addressing common questions encountered in the diagnosis and management of cardiac amyloidosis"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:5 [
                            0 => "M&#46; Maurer"
                            1 => "P&#46; Elliott"
                            2 => "R&#46; Comenzo"
                            3 => "M&#46; Semigran"
                            4 => "C&#46; Rapezzi"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1161/CIRCULATIONAHA.116.024438"
                      "Revista" => array:6 [
                        "tituloSerie" => "Circulation"
                        "fecha" => "2017"
                        "volumen" => "135"
                        "paginaInicial" => "1357"
                        "paginaFinal" => "1377"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/28373528"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
          ]
        ]
      ]
    ]
  ]
  "idiomaDefecto" => "en"
  "url" => "/22548874/0000021900000003/v1_201903280618/S2254887418301796/v1_201903280618/en/main.assets"
  "Apartado" => array:4 [
    "identificador" => "1903"
    "tipo" => "SECCION"
    "en" => array:2 [
      "titulo" => "Brief Original"
      "idiomaDefecto" => true
    ]
    "idiomaDefecto" => "en"
  ]
  "PDF" => "https://static.elsevier.es/multimedia/22548874/0000021900000003/v1_201903280618/S2254887418301796/v1_201903280618/en/main.pdf?idApp=WRCEE&text.app=https://revclinesp.es/"
  "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2254887418301796?idApp=WRCEE"
]
Share
Journal Information

Statistics

Follow this link to access the full text of the article

Brief Original
Atypical presentation of transthyretin amyloidosis in a non-endemic area
Presentación atípica de amiloidosis por transtiretina en un área no endémica
A. Gracia Gutiérreza,
Corresponding author
agraciagut@gmail.com

Corresponding author.
, E. Bueno Juanaa, C. Lahuerta Pueyob, S. Menao Guillénb, J. Escota Villanuevac, M.Á. Aibar Arreguia
a Departamento de Medicina Interna, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain
b Departamento de Bioquímica Clínica y Patología Molecular, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain
c Departamento de Cardiología, Hospital Clínico Universitario Lozano Blesa, ISS-Aragón, Zaragoza, Spain
Read
9
Times
was read the article
7
Total PDF
2
Total HTML
Share statistics
 array:24 [
  "pii" => "S2254887418301796"
  "issn" => "22548874"
  "doi" => "10.1016/j.rceng.2018.11.003"
  "estado" => "S300"
  "fechaPublicacion" => "2019-04-01"
  "aid" => "1581"
  "copyright" => "Elsevier Espa&#241;a&#44; S&#46;L&#46;U&#46; and Sociedad Espa&#241;ola de Medicina Interna &#40;SEMI&#41;"
  "copyrightAnyo" => "2018"
  "documento" => "article"
  "crossmark" => 1
  "subdocumento" => "sco"
  "cita" => "Rev Clin Esp. 2019;219:141-4"
  "abierto" => array:3 [
    "ES" => false
    "ES2" => false
    "LATM" => false
  ]
  "gratuito" => false
  "lecturas" => array:2 [
    "total" => 3
    "formatos" => array:2 [
      "HTML" => 1
      "PDF" => 2
    ]
  ]
  "Traduccion" => array:1 [
    "es" => array:19 [
      "pii" => "S0014256518302807"
      "issn" => "00142565"
      "doi" => "10.1016/j.rce.2018.09.011"
      "estado" => "S300"
      "fechaPublicacion" => "2019-04-01"
      "aid" => "1581"
      "copyright" => "Elsevier Espa&#241;a&#44; S&#46;L&#46;U&#46; and Sociedad Espa&#241;ola de Medicina Interna &#40;SEMI&#41;"
      "documento" => "article"
      "crossmark" => 1
      "subdocumento" => "sco"
      "cita" => "Rev Clin Esp. 2019;219:141-4"
      "abierto" => array:3 [
        "ES" => false
        "ES2" => false
        "LATM" => false
      ]
      "gratuito" => false
      "lecturas" => array:2 [
        "total" => 33
        "formatos" => array:2 [
          "HTML" => 15
          "PDF" => 18
        ]
      ]
      "es" => array:13 [
        "idiomaDefecto" => true
        "cabecera" => "<span class="elsevierStyleTextfn">Original Breve</span>"
        "titulo" => "Presentaci&#243;n at&#237;pica de amiloidosis por transtiretina en un &#225;rea no end&#233;mica"
        "tienePdf" => "es"
        "tieneTextoCompleto" => "es"
        "tieneResumen" => array:2 [
          0 => "es"
          1 => "en"
        ]
        "paginas" => array:1 [
          0 => array:2 [
            "paginaInicial" => "141"
            "paginaFinal" => "144"
          ]
        ]
        "titulosAlternativos" => array:1 [
          "en" => array:1 [
            "titulo" => "Atypical presentation of transthyretin amyloidosis in a non-endemic area"
          ]
        ]
        "contieneResumen" => array:2 [
          "es" => true
          "en" => true
        ]
        "contieneTextoCompleto" => array:1 [
          "es" => true
        ]
        "contienePdf" => array:1 [
          "es" => true
        ]
        "resumenGrafico" => array:2 [
          "original" => 0
          "multimedia" => array:7 [
            "identificador" => "fig0005"
            "etiqueta" => "Figura 1"
            "tipo" => "MULTIMEDIAFIGURA"
            "mostrarFloat" => true
            "mostrarDisplay" => false
            "figura" => array:1 [
              0 => array:4 [
                "imagen" => "gr1.jpeg"
                "Alto" => 568
                "Ancho" => 800
                "Tamanyo" => 27132
              ]
            ]
            "descripcion" => array:1 [
              "es" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">Familia A&#46; Madre e hijas portadoras de la variante gen&#233;tica Glu74Gln&#46;</p>"
            ]
          ]
        ]
        "autores" => array:1 [
          0 => array:2 [
            "autoresLista" => "A&#46; Gracia Guti&#233;rrez, E&#46; Bueno Juana, C&#46; Lahuerta Pueyo, S&#46; Menao Guill&#233;n, J&#46; Escota Villanueva, M&#46;&#193;&#46; Aibar Arregui"
            "autores" => array:6 [
              0 => array:2 [
                "nombre" => "A&#46;"
                "apellidos" => "Gracia Guti&#233;rrez"
              ]
              1 => array:2 [
                "nombre" => "E&#46;"
                "apellidos" => "Bueno Juana"
              ]
              2 => array:2 [
                "nombre" => "C&#46;"
                "apellidos" => "Lahuerta Pueyo"
              ]
              3 => array:2 [
                "nombre" => "S&#46;"
                "apellidos" => "Menao Guill&#233;n"
              ]
              4 => array:2 [
                "nombre" => "J&#46;"
                "apellidos" => "Escota Villanueva"
              ]
              5 => array:2 [
                "nombre" => "M&#46;&#193;&#46;"
                "apellidos" => "Aibar Arregui"
              ]
            ]
          ]
        ]
      ]
      "idiomaDefecto" => "es"
      "Traduccion" => array:1 [
        "en" => array:9 [
          "pii" => "S2254887418301796"
          "doi" => "10.1016/j.rceng.2018.11.003"
          "estado" => "S300"
          "subdocumento" => ""
          "abierto" => array:3 [
            "ES" => false
            "ES2" => false
            "LATM" => false
          ]
          "gratuito" => false
          "lecturas" => array:1 [
            "total" => 0
          ]
          "idiomaDefecto" => "en"
          "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2254887418301796?idApp=WRCEE"
        ]
      ]
      "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0014256518302807?idApp=WRCEE"
      "url" => "/00142565/0000021900000003/v1_201903280610/S0014256518302807/v1_201903280610/es/main.assets"
    ]
  ]
  "itemSiguiente" => array:19 [
    "pii" => "S2254887419300451"
    "issn" => "22548874"
    "doi" => "10.1016/j.rceng.2019.01.011"
    "estado" => "S300"
    "fechaPublicacion" => "2019-04-01"
    "aid" => "1623"
    "copyright" => "Elsevier Espa&#241;a&#44; S&#46;L&#46;U&#46; and Sociedad Espa&#241;ola de Medicina Interna &#40;SEMI&#41;"
    "documento" => "simple-article"
    "crossmark" => 1
    "subdocumento" => "edi"
    "cita" => "Rev Clin Esp. 2019;219:145-6"
    "abierto" => array:3 [
      "ES" => false
      "ES2" => false
      "LATM" => false
    ]
    "gratuito" => false
    "lecturas" => array:1 [
      "total" => 0
    ]
    "en" => array:10 [
      "idiomaDefecto" => true
      "cabecera" => "<span class="elsevierStyleTextfn">Editorial</span>"
      "titulo" => "Internists and death in the hospital"
      "tienePdf" => "en"
      "tieneTextoCompleto" => "en"
      "paginas" => array:1 [
        0 => array:2 [
          "paginaInicial" => "145"
          "paginaFinal" => "146"
        ]
      ]
      "titulosAlternativos" => array:1 [
        "es" => array:1 [
          "titulo" => "Los internistas y la muerte en el hospital"
        ]
      ]
      "contieneTextoCompleto" => array:1 [
        "en" => true
      ]
      "contienePdf" => array:1 [
        "en" => true
      ]
      "autores" => array:1 [
        0 => array:2 [
          "autoresLista" => "S&#46; Plaza Canteli, J&#46; Marco Mart&#237;nez"
          "autores" => array:2 [
            0 => array:2 [
              "nombre" => "S&#46;"
              "apellidos" => "Plaza Canteli"
            ]
            1 => array:2 [
              "nombre" => "J&#46;"
              "apellidos" => "Marco Mart&#237;nez"
            ]
          ]
        ]
      ]
    ]
    "idiomaDefecto" => "en"
    "Traduccion" => array:1 [
      "es" => array:9 [
        "pii" => "S0014256519300207"
        "doi" => "10.1016/j.rce.2019.01.002"
        "estado" => "S300"
        "subdocumento" => ""
        "abierto" => array:3 [
          "ES" => false
          "ES2" => false
          "LATM" => false
        ]
        "gratuito" => false
        "lecturas" => array:1 [
          "total" => 0
        ]
        "idiomaDefecto" => "es"
        "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0014256519300207?idApp=WRCEE"
      ]
    ]
    "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2254887419300451?idApp=WRCEE"
    "url" => "/22548874/0000021900000003/v1_201903280618/S2254887419300451/v1_201903280618/en/main.assets"
  ]
  "itemAnterior" => array:19 [
    "pii" => "S2254887419300062"
    "issn" => "22548874"
    "doi" => "10.1016/j.rceng.2018.09.007"
    "estado" => "S300"
    "fechaPublicacion" => "2019-04-01"
    "aid" => "1586"
    "copyright" => "Elsevier Espa&#241;a&#44; S&#46;L&#46;U&#46; and Sociedad Espa&#241;ola de Medicina Interna &#40;SEMI&#41;"
    "documento" => "article"
    "crossmark" => 1
    "subdocumento" => "fla"
    "cita" => "Rev Clin Esp. 2019;219:130-40"
    "abierto" => array:3 [
      "ES" => false
      "ES2" => false
      "LATM" => false
    ]
    "gratuito" => false
    "lecturas" => array:1 [
      "total" => 0
    ]
    "en" => array:12 [
      "idiomaDefecto" => true
      "cabecera" => "<span class="elsevierStyleTextfn">Original article</span>"
      "titulo" => "First hospital admission due to heart failure&#58; In-hospital mortality and patient profile"
      "tienePdf" => "en"
      "tieneTextoCompleto" => "en"
      "tieneResumen" => array:2 [
        0 => "en"
        1 => "es"
      ]
      "paginas" => array:1 [
        0 => array:2 [
          "paginaInicial" => "130"
          "paginaFinal" => "140"
        ]
      ]
      "titulosAlternativos" => array:1 [
        "es" => array:1 [
          "titulo" => "Primera hospitalizaci&#243;n por insuficiencia cardiaca&#58; mortalidad hospitalaria y perfil del paciente"
        ]
      ]
      "contieneResumen" => array:2 [
        "en" => true
        "es" => true
      ]
      "contieneTextoCompleto" => array:1 [
        "en" => true
      ]
      "contienePdf" => array:1 [
        "en" => true
      ]
      "autores" => array:1 [
        0 => array:2 [
          "autoresLista" => "J&#46; Masip, F&#46; Formiga, M&#46; Fern&#225;ndez-Casta&#241;er, P&#46; Fern&#225;ndez, J&#46; Com&#237;n-Colet, X&#46; Corbella"
          "autores" => array:6 [
            0 => array:2 [
              "nombre" => "J&#46;"
              "apellidos" => "Masip"
            ]
            1 => array:2 [
              "nombre" => "F&#46;"
              "apellidos" => "Formiga"
            ]
            2 => array:2 [
              "nombre" => "M&#46;"
              "apellidos" => "Fern&#225;ndez-Casta&#241;er"
            ]
            3 => array:2 [
              "nombre" => "P&#46;"
              "apellidos" => "Fern&#225;ndez"
            ]
            4 => array:2 [
              "nombre" => "J&#46;"
              "apellidos" => "Com&#237;n-Colet"
            ]
            5 => array:2 [
              "nombre" => "X&#46;"
              "apellidos" => "Corbella"
            ]
          ]
        ]
      ]
    ]
    "idiomaDefecto" => "en"
    "Traduccion" => array:1 [
      "es" => array:9 [
        "pii" => "S0014256518302893"
        "doi" => "10.1016/j.rce.2018.09.014"
        "estado" => "S300"
        "subdocumento" => ""
        "abierto" => array:3 [
          "ES" => false
          "ES2" => false
          "LATM" => false
        ]
        "gratuito" => false
        "lecturas" => array:1 [
          "total" => 0
        ]
        "idiomaDefecto" => "es"
        "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0014256518302893?idApp=WRCEE"
      ]
    ]
    "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2254887419300062?idApp=WRCEE"
    "url" => "/22548874/0000021900000003/v1_201903280618/S2254887419300062/v1_201903280618/en/main.assets"
  ]
  "en" => array:20 [
    "idiomaDefecto" => true
    "cabecera" => "<span class="elsevierStyleTextfn">Brief Original</span>"
    "titulo" => "Atypical presentation of transthyretin amyloidosis in a non-endemic area"
    "tieneTextoCompleto" => true
    "paginas" => array:1 [
      0 => array:2 [
        "paginaInicial" => "141"
        "paginaFinal" => "144"
      ]
    ]
    "autores" => array:1 [
      0 => array:4 [
        "autoresLista" => "A&#46; Gracia Guti&#233;rrez, E&#46; Bueno Juana, C&#46; Lahuerta Pueyo, S&#46; Menao Guill&#233;n, J&#46; Escota Villanueva, M&#46;&#193;&#46; Aibar Arregui"
        "autores" => array:6 [
          0 => array:4 [
            "nombre" => "A&#46;"
            "apellidos" => "Gracia Guti&#233;rrez"
            "email" => array:1 [
              0 => "agraciagut&#64;gmail&#46;com"
            ]
            "referencia" => array:2 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "aff0005"
              ]
              1 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">&#42;</span>"
                "identificador" => "cor0005"
              ]
            ]
          ]
          1 => array:3 [
            "nombre" => "E&#46;"
            "apellidos" => "Bueno Juana"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "aff0005"
              ]
            ]
          ]
          2 => array:3 [
            "nombre" => "C&#46;"
            "apellidos" => "Lahuerta Pueyo"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">b</span>"
                "identificador" => "aff0010"
              ]
            ]
          ]
          3 => array:3 [
            "nombre" => "S&#46;"
            "apellidos" => "Menao Guill&#233;n"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">b</span>"
                "identificador" => "aff0010"
              ]
            ]
          ]
          4 => array:3 [
            "nombre" => "J&#46;"
            "apellidos" => "Escota Villanueva"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">c</span>"
                "identificador" => "aff0015"
              ]
            ]
          ]
          5 => array:3 [
            "nombre" => "M&#46;&#193;&#46;"
            "apellidos" => "Aibar Arregui"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "aff0005"
              ]
            ]
          ]
        ]
        "afiliaciones" => array:3 [
          0 => array:3 [
            "entidad" => "Departamento de Medicina Interna&#44; Hospital Cl&#237;nico Universitario Lozano Blesa&#44; Zaragoza&#44; Spain"
            "etiqueta" => "a"
            "identificador" => "aff0005"
          ]
          1 => array:3 [
            "entidad" => "Departamento de Bioqu&#237;mica Cl&#237;nica y Patolog&#237;a Molecular&#44; Hospital Cl&#237;nico Universitario Lozano Blesa&#44; Zaragoza&#44; Spain"
            "etiqueta" => "b"
            "identificador" => "aff0010"
          ]
          2 => array:3 [
            "entidad" => "Departamento de Cardiolog&#237;a&#44; Hospital Cl&#237;nico Universitario Lozano Blesa&#44; ISS-Arag&#243;n&#44; Zaragoza&#44; Spain"
            "etiqueta" => "c"
            "identificador" => "aff0015"
          ]
        ]
        "correspondencia" => array:1 [
          0 => array:3 [
            "identificador" => "cor0005"
            "etiqueta" => "&#8270;"
            "correspondencia" => "Corresponding author&#46;"
          ]
        ]
      ]
    ]
    "titulosAlternativos" => array:1 [
      "es" => array:1 [
        "titulo" => "Presentaci&#243;n at&#237;pica de amiloidosis por transtiretina en un &#225;rea no end&#233;mica"
      ]
    ]
    "resumenGrafico" => array:2 [
      "original" => 0
      "multimedia" => array:7 [
        "identificador" => "fig0005"
        "etiqueta" => "Figure 1"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
          0 => array:4 [
            "imagen" => "gr1.jpeg"
            "Alto" => 568
            "Ancho" => 800
            "Tamanyo" => 27132
          ]
        ]
        "descripcion" => array:1 [
          "en" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">Family A&#46; Mother and daughter carriers of the genetic variant Glu74Gln&#46;</p>"
        ]
      ]
    ]
    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">Background</span><p id="par0005" class="elsevierStylePara elsevierViewall">Systemic amyloidoses are diseases characterized by the extracellular deposit of amyloid material&#46;<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">1</span></a> The most common types of amyloidosis are the primary type or AL&#44; the secondary type or AA and transthyretin amyloidosis &#40;ATTR&#41;&#46;<a class="elsevierStyleCrossRefs" href="#bib0085"><span class="elsevierStyleSup">1&#44;2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Transthyretin &#40;TTR&#41; is the carrier protein of thyroxine and retinol<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">3</span></a> and has a natural tendency to form amyloid fibrils that are then deposited&#44; causing cell damage and toxicity&#46;<a class="elsevierStyleCrossRefs" href="#bib0100"><span class="elsevierStyleSup">4&#44;5</span></a> There are 2 types of TTR amyloidosis&#58; a senile variant or wild-type ATTR &#40;wt-ATTR&#41; and another resulting from pathogenic variants of the TTR gene &#40;m-ATTR&#41; of which approximately 100 pathogenic variants have been described&#46;<a class="elsevierStyleCrossRefs" href="#bib0085"><span class="elsevierStyleSup">1&#44;3&#44;6&#8211;8</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">M-ATTR is a progressive and fatal disease&#44; with considerable variability in the clinical manifestations&#44; which are predominantly neurological &#40;in the form of sensory-motor neuropathy&#41; and cardiac &#40;in the form of cardiomyopathy&#41;&#46; This variability depends on the genetic variant&#44; transmitted in an autosomal dominant manner with variable phenotypic penetrance&#44; and on factors such as the geographical area&#44; leading to significant difficulty in its diagnosis&#46;<a class="elsevierStyleCrossRefs" href="#bib0095"><span class="elsevierStyleSup">3&#44;5&#44;7&#44;9&#44;10</span></a></p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0070">Materials and methods</span><p id="par0020" class="elsevierStylePara elsevierViewall">We selected 63 patients with suspected TTR amyloidosis in the University Clinic Hospital of Zaragoza&#44; treated in the internal medicine and cardiology departments between May 1&#44; 2016 and June 30&#44; 2017&#46; The study was authorized by the Clinical Research Ethics Committee of Aragon &#40;CEICA&#41;&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">Inclusion criteria&#58;<ul class="elsevierStyleList" id="lis0005"><li class="elsevierStyleListItem" id="lsti0005"><span class="elsevierStyleLabel">-</span><p id="par0030" class="elsevierStylePara elsevierViewall">Heart failure with preserved ejection fraction with no history of valvular heart disease or arterial hypertension&#46;</p></li><li class="elsevierStyleListItem" id="lsti0010"><span class="elsevierStyleLabel">-</span><p id="par0035" class="elsevierStylePara elsevierViewall">History of dysautonomia or bilateral carpel tunnel syndrome &#40;CTS&#41;&#46;</p></li><li class="elsevierStyleListItem" id="lsti0015"><span class="elsevierStyleLabel">-</span><p id="par0040" class="elsevierStylePara elsevierViewall">Polyneuropathy of unknown etiology&#46;</p></li><li class="elsevierStyleListItem" id="lsti0020"><span class="elsevierStyleLabel">-</span><p id="par0045" class="elsevierStylePara elsevierViewall">Imaging tests consistent with amyloidosis&#58; scintigraphy &#40;uptake of 99mTc-DPD in the heart&#41;&#44; echocardiogram &#40;thickening of the left ventricular free wall &#91;&#62;12<span class="elsevierStyleHsp" style=""></span>mm&#93; or of the septum &#91;&#62;13<span class="elsevierStyleHsp" style=""></span>mm&#93; and&#47;or granular pattern&#41;&#44; cardiac magnetic resonance imaging &#40;MRI&#41; &#40;late gadolinium enhancement&#41;&#46;</p></li><li class="elsevierStyleListItem" id="lsti0025"><span class="elsevierStyleLabel">-</span><p id="par0050" class="elsevierStylePara elsevierViewall">Electroneurography&#47;electromyography compatible with familial amyloid polyneuropathy&#46;</p></li><li class="elsevierStyleListItem" id="lsti0030"><span class="elsevierStyleLabel">-</span><p id="par0055" class="elsevierStylePara elsevierViewall">History of amyloidosis of unknown origin&#46;</p></li></ul></p><p id="par0060" class="elsevierStylePara elsevierViewall">Exclusion criteria&#58;<ul class="elsevierStyleList" id="lis0010"><li class="elsevierStyleListItem" id="lsti0035"><span class="elsevierStyleLabel">-</span><p id="par0065" class="elsevierStylePara elsevierViewall">Underage patients&#46;</p></li><li class="elsevierStyleListItem" id="lsti0040"><span class="elsevierStyleLabel">-</span><p id="par0070" class="elsevierStylePara elsevierViewall">Patient refusal&#46;</p></li></ul></p><p id="par0075" class="elsevierStylePara elsevierViewall">We included patients who met 2 or more criteria to obtain a sample with a high probability of ATTR&#46; Once the patients were selected&#44; they were informed about the study and asked for their appropriate consent&#46; They then underwent a genetic study using Sanger sequencing&#46; First-degree relatives of those patients with positive results were offered the option of a study&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0075">Results</span><p id="par0080" class="elsevierStylePara elsevierViewall">We studied 63 patients&#44; half of whom were male&#44; with a mean age of 73&#46;08 &#40;&#177;17&#46;8&#41; years&#44; and 95&#37; were Spanish&#46; The symptoms presented at diagnosis were predominantly cardiac &#40;dyspnea&#44; chest pain and edema&#41; and neurological &#40;paresthesia and muscle weakness&#41;&#46; There were 7 cases positive for m-ATTR distributed among 3 families and 3 polymorphisms not associated with disease&#46;</p><p id="par0085" class="elsevierStylePara elsevierViewall">The 3 cases with genetic variants of TTR are described below&#46;</p><p id="par0090" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">Family A</span>&#46; Genetic variant Glu74Gln &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; A 43-year-old woman from Romania&#44; with no family history but with a history of bilateral CTS who was admitted for decompensated heart failure &#40;HF&#41;&#46; During her hospitalization&#44; the patient underwent numerous additional tests&#44; which revealed restrictive cardiomyopathy in the echocardiogram and suspected amyloidosis in the cardiac MRI&#46; The genetic study found the genetic variant Glu74Gln&#46; While on the waiting list for a heart and liver transplant&#44; the patient died after experiencing a massive ischemic stroke&#46; Genetic counseling was provided to her 2 children&#44; a healthy male and a daughter who carried the same genetic variant in heterozygosity&#46; The daughter is currently asymptomatic and in follow-up in internal medicine consultations&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0095" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">Family B&#46;</span> Genetic variant Val142Ile&#44; in heterozygosity &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; An 86-year-old Spanish woman&#44; with no family history but with a history of arterial hypertension &#40;AHT&#41;&#44; atrial fibrillation and HF&#44; was admitted for symptoms of decompensated HF&#46; Tests revealed symmetrical ventricular hypertrophy suggestive of senile amyloidosis&#46; The results of a monoclonal gammopathy study were negative&#44; NT-proBNP levels were high&#44; and fine-needle aspiration cytology of abdominal fat was negative&#46; Scintigraphy was not performed&#46; A genetic study was requested&#44; which showed the genetic variant Val142Ile&#46; The patient&#39;s 90-year-old sister was also examined&#46; The sister had a history of AHT&#44; HF and macular degeneration and was admitted for syncope secondary to a complete atrioventricular block&#46; The echocardiogram revealed moderate valvular heart disease and preserved ejection fraction&#46; Neither scintigraphy nor biopsy was performed on the sister&#46; The genetic study detected the same variant as in her sister&#44; Val142Ile&#46; The genetic study was performed on the rest of the family&#44; detecting the same genetic variant in a 42-year-old nephew&#44; who was asymptomatic&#46; The results of additional tests on the nephew showed normal values&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0100" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleItalic">Family C&#46;</span> Genetic variant Val142Ile&#44; in homozygosity &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; A 59-year-old Ghanaian woman&#44; with a medical history of AHT&#44; type 2 DM&#44; dyslipidemia&#44; lacunar stroke without sequela&#44; chronic pulmonary thromboembolism and pulmonary fibrosis and user of home oxygen therapy&#46; The echocardiogram revealed infiltrative cardiomyopathy with severe concentric hypertrophy&#44; preserved systolic function&#44; restrictive filling pattern and severe pulmonary hypertension&#46; The cardiac MRI suggested cardiac amyloidosis as the first option&#46; The patient presented dyspnea &#40;New York Heart Association functional class II-III&#41;&#46; Myocardial scintigraphy revealed intense uptake in both ventricles&#46; The results of the fine-needle aspiration cytology of subcutaneous fat were negative&#44; and a genetic study was positive for ATTR due to the genetic variant Val142Ile in homozygosity&#46; The patient&#39;s daughter underwent the genetic study&#44; which revealed that the daughter carried the same pathogenic variant&#46; Two of the patient&#39;s nieces underwent the test with negative results&#46; We assume that the parents of the index case were carriers of the genetic variant due to the involvement in homozygosity of the index case&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0080">Discussion</span><p id="par0105" class="elsevierStylePara elsevierViewall">We present the pathogenic variants of 3 families with compatible symptoms and positive genetic study results for amyloidogenic variants&#46; The Zaragoza area &#40;Aragon&#41; is a nonendemic area for m-ATTR&#46; This sample is obviously highly selected&#44; and the results of this study cannot therefore be extrapolated to the general population&#46; The study should also not be viewed as a prevalence study&#46; However&#44; the presence of 3 cases of a rare disease in a sample of only 63 patients has a certain value and suggests we are faced with an underdiagnosed disease&#46;</p><p id="par0110" class="elsevierStylePara elsevierViewall">The first family presented the pathogenic variant Glu74Gln&#44; whose initial involvement is usually CTS&#44; with subsequently cardiac manifestations&#46;<a class="elsevierStyleCrossRef" href="#bib0135"><span class="elsevierStyleSup">11</span></a> This genetic variant has been described in 2 Romanian individuals&#44; as well as in our index case&#46;<a class="elsevierStyleCrossRef" href="#bib0135"><span class="elsevierStyleSup">11</span></a> These data suggest that there are clusters in regions considered nonendemic&#44; from which we have no data&#46;</p><p id="par0115" class="elsevierStylePara elsevierViewall">The other 2 families presented the pathogenic variant Val142Ile&#44; one in heterozygosity and the other in homozygosity&#46; As described in the literature&#44; this genetic variant is the most common in the US &#40;23&#37;&#41;&#44; especially in individuals of African-American descent&#44; and is rare in other ethnic groups&#46;<a class="elsevierStyleCrossRef" href="#bib0110"><span class="elsevierStyleSup">6</span></a> The frequency of this variant in the white and Hispanic population in the US is 0&#46;44&#37; and 0&#37;&#44; respectively&#46;<a class="elsevierStyleCrossRef" href="#bib0125"><span class="elsevierStyleSup">9</span></a> In our population&#44; the first family described is Spanish&#44; and the second was Ghanaian&#44; which shows that cases can occur in nonendemic areas&#44; native and imported&#46;</p><p id="par0120" class="elsevierStylePara elsevierViewall">The Val142Ile allele generally presents in heterozygosity and with cardiac symptoms&#46;<a class="elsevierStyleCrossRefs" href="#bib0105"><span class="elsevierStyleSup">5&#44;6</span></a> Our 2 families started with cardiac impairment and&#44; in the homozygous patient&#44; with pulmonary involvement categorized as &#8220;fibrosis&#8221;&#44; which we have not been able to confirm due to the negative results of the lung biopsy&#46; Pulmonary involvement in m-ATTR consists mainly of diffuse alveolar septal amyloidosis&#44; which can be confused with pulmonary fibrosis if amyloid deposits are not specifically searched for&#46;<a class="elsevierStyleCrossRef" href="#bib0140"><span class="elsevierStyleSup">12</span></a></p><p id="par0125" class="elsevierStylePara elsevierViewall">In our series&#44; 2 families presented with the variant Val142Ile&#44; one of the patients in homozygosity and the others in heterozygosity&#46; Although not the rule&#44; homozygous cases typically develop symptoms approximately 10 years before heterozygous cases&#46;<a class="elsevierStyleCrossRefs" href="#bib0145"><span class="elsevierStyleSup">13&#44;14</span></a></p><p id="par0130" class="elsevierStylePara elsevierViewall">Certain gene variants are characterized by their strong genotype&#47;phenotype correlation and are associated with predominantly neurological &#40;Val50Met&#41;&#44; cardiac &#40;Val142Ile&#41; or mixed &#40;Thr80Ala&#41; disease&#46;<a class="elsevierStyleCrossRef" href="#bib0155"><span class="elsevierStyleSup">15</span></a> Nevertheless&#44; this disease has a considerable phenotypic variability&#44; which impedes its diagnosis&#46;<a class="elsevierStyleCrossRefs" href="#bib0155"><span class="elsevierStyleSup">15&#44;16</span></a></p><p id="par0135" class="elsevierStylePara elsevierViewall">This difficulty is greater in nonendemic areas and in atypical cases&#44; such as the ones we presented&#46;</p><p id="par0140" class="elsevierStylePara elsevierViewall">The first case is significant due to its rare and imported variant&#46; The second case stands out for being a variant with homozygous involvement and with possible pulmonary involvement&#46; The third case is important for being diagnosed in a native family from a nonendemic area affected by a pathogenic variant almost exclusively of the African-American population&#46;</p><p id="par0145" class="elsevierStylePara elsevierViewall">This study highlights the need to include ATTR in our differential diagnosis of diseases as common as peripheral neuropathy and heart failure with preserved ejection fraction&#44; especially in young patients with no clear etiology&#46;</p><p id="par0150" class="elsevierStylePara elsevierViewall">Our study&#39;s limitations include the small sample size&#44; due to the fact that we decided to require 2 inclusion criteria from the patients&#44; which increased the possibility of recruiting positive patients&#59; however&#44; just one of the previously mentioned criteria would have been sufficient to include them in the differential diagnosis of ATTR&#46;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0085">Conclusions</span><p id="par0155" class="elsevierStylePara elsevierViewall">ATTR is a rare disease that manifests mainly in endemic areas but can appear in any population&#44; both in native and immigrant patients&#46; Maintaining a high index of suspicion is essential for initiating the appropriate diagnostic methods for an early diagnosis of the disease&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0090">Funding</span><p id="par0160" class="elsevierStylePara elsevierViewall">The present study was partially funded by <span class="elsevierStyleGrantSponsor" id="gs1">Pfizer</span>&#46;</p></span></span>"
    "textoCompletoSecciones" => array:1 [
      "secciones" => array:11 [
        0 => array:3 [
          "identificador" => "xres1171506"
          "titulo" => "Abstract"
          "secciones" => array:4 [
            0 => array:2 [
              "identificador" => "abst0005"
              "titulo" => "Background and objective"
            ]
            1 => array:2 [
              "identificador" => "abst0010"
              "titulo" => "Material and methods"
            ]
            2 => array:2 [
              "identificador" => "abst0015"
              "titulo" => "Results"
            ]
            3 => array:2 [
              "identificador" => "abst0020"
              "titulo" => "Conclusions"
            ]
          ]
        ]
        1 => array:2 [
          "identificador" => "xpalclavsec1095905"
          "titulo" => "Keywords"
        ]
        2 => array:3 [
          "identificador" => "xres1171505"
          "titulo" => "Resumen"
          "secciones" => array:4 [
            0 => array:2 [
              "identificador" => "abst0025"
              "titulo" => "Antecedente y objetivo"
            ]
            1 => array:2 [
              "identificador" => "abst0030"
              "titulo" => "Material y m&#233;todos"
            ]
            2 => array:2 [
              "identificador" => "abst0035"
              "titulo" => "Resultados"
            ]
            3 => array:2 [
              "identificador" => "abst0040"
              "titulo" => "Conclusiones"
            ]
          ]
        ]
        3 => array:2 [
          "identificador" => "xpalclavsec1095906"
          "titulo" => "Palabras clave"
        ]
        4 => array:2 [
          "identificador" => "sec0005"
          "titulo" => "Background"
        ]
        5 => array:2 [
          "identificador" => "sec0010"
          "titulo" => "Materials and methods"
        ]
        6 => array:2 [
          "identificador" => "sec0015"
          "titulo" => "Results"
        ]
        7 => array:2 [
          "identificador" => "sec0020"
          "titulo" => "Discussion"
        ]
        8 => array:2 [
          "identificador" => "sec0025"
          "titulo" => "Conclusions"
        ]
        9 => array:2 [
          "identificador" => "sec0030"
          "titulo" => "Funding"
        ]
        10 => array:1 [
          "titulo" => "References"
        ]
      ]
    ]
    "pdfFichero" => "main.pdf"
    "tienePdf" => true
    "fechaRecibido" => "2018-07-20"
    "fechaAceptado" => "2018-09-17"
    "PalabrasClave" => array:2 [
      "en" => array:1 [
        0 => array:4 [
          "clase" => "keyword"
          "titulo" => "Keywords"
          "identificador" => "xpalclavsec1095905"
          "palabras" => array:5 [
            0 => "Hereditary amyloidosis"
            1 => "Transthyretin"
            2 => "Cardiomyopathy"
            3 => "Polyneuropathy"
            4 => "Heterogeneous disease"
          ]
        ]
      ]
      "es" => array:1 [
        0 => array:4 [
          "clase" => "keyword"
          "titulo" => "Palabras clave"
          "identificador" => "xpalclavsec1095906"
          "palabras" => array:5 [
            0 => "Amiloidosis hereditaria"
            1 => "Transtiretina"
            2 => "Miocardiopat&#237;a"
            3 => "Polineuropat&#237;a"
            4 => "Enfermedad heterog&#233;nea"
          ]
        ]
      ]
    ]
    "tieneResumen" => true
    "resumen" => array:2 [
      "en" => array:3 [
        "titulo" => "Abstract"
        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Background and objective</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">There are 2 types of amyloidosis caused by transthyretin deposits&#58; the wild type &#40;wt-ATTR&#41; and the mutant type &#40;m-ATTR&#41;&#44; transmitted by autosomal dominant inheritance with variable penetrance&#44; manifesting with neurological and&#47;or cardiac symptoms&#46; We report on 3 families affected by m-ATTR diagnosed in a nonendemic area&#46;</p></span> <span id="abst0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Material and methods</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">We studied 63 patients with a high suspicion of ATTR&#46; The diagnosis was subsequently performed by magnification through polymerase chain reaction of DNA&#46; For the positive cases&#44; we studied the first-degree relatives&#46;</p></span> <span id="abst0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Results</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">We detected 7 positive cases of m-ATTR&#44; distributed among 3 families &#40;Glu74Gln&#44; Val142Ile in heterozygosity and Val142Ile in homozygosity&#41;&#44; and 3 cases of nonpathogenic variants&#46;</p></span> <span id="abst0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Conclusions</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Hereditary ATTR is a rare disease but is present in nonendemic areas and should therefore be considered in the differential diagnosis of patients with polyneuropathy and&#47;or heart failure with preserved ejection fraction&#46;</p></span>"
        "secciones" => array:4 [
          0 => array:2 [
            "identificador" => "abst0005"
            "titulo" => "Background and objective"
          ]
          1 => array:2 [
            "identificador" => "abst0010"
            "titulo" => "Material and methods"
          ]
          2 => array:2 [
            "identificador" => "abst0015"
            "titulo" => "Results"
          ]
          3 => array:2 [
            "identificador" => "abst0020"
            "titulo" => "Conclusions"
          ]
        ]
      ]
      "es" => array:3 [
        "titulo" => "Resumen"
        "resumen" => "<span id="abst0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Antecedente y objetivo</span><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Existen 2 tipos de amiloidosis producidas por dep&#243;sitos de transtiretina&#44; el tipo salvaje &#40;wt-ATTR&#41; y el tipo mutante &#40;m-ATTR&#41;&#44; transmitido por herencia autos&#243;mica dominante con penetrancia variable&#44; manifest&#225;ndose con cl&#237;nica neurol&#243;gica y&#47;o card&#237;aca&#46; Describimos 3 familias afectadas por m-ATTR diagnosticadas en un &#225;rea no end&#233;mica&#46;</p></span> <span id="abst0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Material y m&#233;todos</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Se estudiaron 63 pacientes con alta sospecha de amiloidosis TTR&#46; Posteriormente&#44; el diagn&#243;stico se realiz&#243; por amplificaci&#243;n mediante PCR de ADN y en los casos positivos se estudiaron a los familiares de primer grado&#46;</p></span> <span id="abst0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Resultados</span><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Se detectaron 7 casos positivos para m-ATTR&#44; distribuidos en 3 familias &#40;Glu74Gln&#44; Val142Ile en heterocigosis y Val142Ile en homocigosis&#41; y 3 casos de variantes no patog&#233;nicas&#46;</p></span> <span id="abst0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Conclusiones</span><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">La amiloidosis hereditaria por TTR es una enfermedad rara&#44; pero presente en &#225;reas no end&#233;micas&#44; por lo que debe tenerse en cuenta en el diagn&#243;stico diferencial de los pacientes con polineuropat&#237;a y&#47;o insuficiencia cardiaca con fracci&#243;n de eyecci&#243;n preservada&#46;</p></span>"
        "secciones" => array:4 [
          0 => array:2 [
            "identificador" => "abst0025"
            "titulo" => "Antecedente y objetivo"
          ]
          1 => array:2 [
            "identificador" => "abst0030"
            "titulo" => "Material y m&#233;todos"
          ]
          2 => array:2 [
            "identificador" => "abst0035"
            "titulo" => "Resultados"
          ]
          3 => array:2 [
            "identificador" => "abst0040"
            "titulo" => "Conclusiones"
          ]
        ]
      ]
    ]
    "NotaPie" => array:1 [
      0 => array:2 [
        "etiqueta" => "&#9734;"
        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; Gracia Guti&#233;rrez A&#44; Bueno Juana E&#44; Lahuerta Pueyo C&#44; Menao Guill&#233;n S&#44; Escota Villanueva J&#44; Aibar Arregui M&#193;&#46; Presentaci&#243;n at&#237;pica de amiloidosis por transtiretina en un &#225;rea no end&#233;mica&#46; Rev Clin Esp&#46; 2019&#59;219&#58;141&#8211;144&#46;</p>"
      ]
    ]
    "multimedia" => array:2 [
      0 => array:7 [
        "identificador" => "fig0005"
        "etiqueta" => "Figure 1"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
          0 => array:4 [
            "imagen" => "gr1.jpeg"
            "Alto" => 568
            "Ancho" => 800
            "Tamanyo" => 27132
          ]
        ]
        "descripcion" => array:1 [
          "en" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">Family A&#46; Mother and daughter carriers of the genetic variant Glu74Gln&#46;</p>"
        ]
      ]
      1 => array:7 [
        "identificador" => "fig0010"
        "etiqueta" => "Figure 2"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
          0 => array:4 [
            "imagen" => "gr2.jpeg"
            "Alto" => 1087
            "Ancho" => 1200
            "Tamanyo" => 83333
          ]
        ]
        "descripcion" => array:1 [
          "en" => "<p id="spar0050" class="elsevierStyleSimplePara elsevierViewall">Family B&#46; Sisters and nephew carriers of the genetic variant Val142Ile&#46; Family C&#46; Mother with the genetic variant Val142Ile in homozygous form&#46; Daughter carrier of the same genetic variant&#46;</p>"
        ]
      ]
    ]
    "bibliografia" => array:2 [
      "titulo" => "References"
      "seccion" => array:1 [
        0 => array:2 [
          "identificador" => "bibs0015"
          "bibliografiaReferencia" => array:16 [
            0 => array:3 [
              "identificador" => "bib0085"
              "etiqueta" => "1"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Systemic amyloidosis"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [
                            0 => "A&#46; Wechalekar"
                            1 => "J&#46; Gilmore"
                            2 => "P&#46; Hawkins"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/S0140-6736(15)01274-X"
                      "Revista" => array:6 [
                        "tituloSerie" => "Lancet"
                        "fecha" => "2016"
                        "volumen" => "387"
                        "paginaInicial" => "2641"
                        "paginaFinal" => "2654"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/26719234"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            1 => array:3 [
              "identificador" => "bib0090"
              "etiqueta" => "2"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Amyloid fibril proteins and amyloidosis&#58; chemical identification and clinical classification international society of amyloidosis 2016 nomenclature guidelines"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "J&#46; Sipe"
                            1 => "M&#46; Benson"
                            2 => "J&#46; Buxbaum"
                            3 => "S&#46; Ikeda"
                            4 => "G&#46; Merlini"
                            5 => "M&#46; Saraiva"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1080/13506129.2016.1257986"
                      "Revista" => array:6 [
                        "tituloSerie" => "Amyloid"
                        "fecha" => "2016"
                        "volumen" => "23"
                        "paginaInicial" => "209"
                        "paginaFinal" => "213"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/27884064"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            2 => array:3 [
              "identificador" => "bib0095"
              "etiqueta" => "3"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Cardiac transthyretin amyloidosis"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:4 [
                            0 => "J&#46;N&#46; Dungu"
                            1 => "L&#46;J&#46; Anderson"
                            2 => "C&#46;J&#46; Whelan"
                            3 => "P&#46;N&#46; Hawkins"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1136/heartjnl-2012-301924"
                      "Revista" => array:6 [
                        "tituloSerie" => "Heart"
                        "fecha" => "2012"
                        "volumen" => "98"
                        "paginaInicial" => "1546"
                        "paginaFinal" => "1554"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/22888163"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            3 => array:3 [
              "identificador" => "bib0100"
              "etiqueta" => "4"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Diagnosis&#44; prognosis and therapy of transthyretin amyloidosis"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "M&#46;A&#46; Gertz"
                            1 => "M&#46;D&#46; Benson"
                            2 => "P&#46;J&#46; Dyck"
                            3 => "M&#46; Grogan"
                            4 => "T&#46; Coelho"
                            5 => "M&#46; Cruz"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.jacc.2015.09.075"
                      "Revista" => array:7 [
                        "tituloSerie" => "JACC"
                        "fecha" => "2015"
                        "volumen" => "66"
                        "paginaInicial" => "2451"
                        "paginaFinal" => "2466"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/26610878"
                            "web" => "Medline"
                          ]
                        ]
                        "itemHostRev" => array:3 [
                          "pii" => "S2213219818302897"
                          "estado" => "S300"
                          "issn" => "22132198"
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            4 => array:3 [
              "identificador" => "bib0105"
              "etiqueta" => "5"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Transthyretin amyloidosis&#58; an under-recognized neuropathy and cardiomyopathy"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:4 [
                            0 => "N&#46; Galant"
                            1 => "P&#46; Westermark"
                            2 => "J&#46; Higaki"
                            3 => "Chakrabartty"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1042/CS20160413"
                      "Revista" => array:6 [
                        "tituloSerie" => "Clin Sci"
                        "fecha" => "2017"
                        "volumen" => "131"
                        "paginaInicial" => "395"
                        "paginaFinal" => "409"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/28213611"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            5 => array:3 [
              "identificador" => "bib0110"
              "etiqueta" => "6"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Transthyretin cardiac amyloidosis&#58; pathogenesis&#44; treatments&#44; and emerging role in heart failure with preserved ejection fraction"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [
                            0 => "V&#46;K&#46; Ton"
                            1 => "M&#46; Mukherjee"
                            2 => "D&#46;P&#46; Judge"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.4137/CMC.S15719"
                      "Revista" => array:6 [
                        "tituloSerie" => "Clin Med Insights Cardiol"
                        "fecha" => "2015"
                        "volumen" => "8"
                        "paginaInicial" => "39"
                        "paginaFinal" => "44"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/25628512"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            6 => array:3 [
              "identificador" => "bib0115"
              "etiqueta" => "7"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "One mutation&#44; two distinct disease variants&#58; unravelling the impact of transthyretin amyloid fibril composition"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [
                            0 => "O&#46; Suhr"
                            1 => "E&#46; Lundgren"
                            2 => "P&#46; Westermark"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1111/joim.12585"
                      "Revista" => array:7 [
                        "tituloSerie" => "J Intern Med"
                        "fecha" => "2017"
                        "volumen" => "281"
                        "paginaInicial" => "337"
                        "paginaFinal" => "347"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/28093848"
                            "web" => "Medline"
                          ]
                        ]
                        "itemHostRev" => array:3 [
                          "pii" => "S0091674909027341"
                          "estado" => "S300"
                          "issn" => "00916749"
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            7 => array:3 [
              "identificador" => "bib0120"
              "etiqueta" => "8"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "The prevalence and management of systemic amyloidosis in western countries"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [
                            0 => "H&#46; Nienhuis"
                            1 => "J&#46; Bijzet"
                            2 => "B&#46; Hazenberg"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Kidney Dis"
                        "fecha" => "2016"
                        "volumen" => "2"
                        "paginaInicial" => "1"
                        "paginaFinal" => "9"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            8 => array:3 [
              "identificador" => "bib0125"
              "etiqueta" => "9"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Guideline of transthyretin-related hereditary amyloidosis for clinicians"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "Y&#46; Ando"
                            1 => "T&#46; Coelho"
                            2 => "J&#46; Berk"
                            3 => "M&#46; Waddington"
                            4 => "B&#46; Ericzon"
                            5 => "S&#46; Ikeda"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:4 [
                        "tituloSerie" => "J Rare Dis"
                        "fecha" => "2013"
                        "volumen" => "8"
                        "paginaInicial" => "31"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            9 => array:3 [
              "identificador" => "bib0130"
              "etiqueta" => "10"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Current concepts of cardiac amyloidosis&#46; Diagnosis&#44; clinical management&#44; and the need for collaboration"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:6 [
                            0 => "A&#46; Ritts"
                            1 => "R&#46; Cornell"
                            2 => "K&#46; Swiger"
                            3 => "J&#46; Singh"
                            4 => "S&#46; Goodman"
                            5 => "D&#46;J&#46; Lenihan"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Heart Failure Clin"
                        "fecha" => "2017"
                        "volumen" => "13"
                        "paginaInicial" => "409"
                        "paginaFinal" => "416"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            10 => array:3 [
              "identificador" => "bib0135"
              "etiqueta" => "11"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Amiloidosis card&#237;aca secundaria a la mutaci&#243;n familiar Glu54Gln del gen de la transtiretina"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:5 [
                            0 => "I&#46; Torres-Courchoud"
                            1 => "R&#46; Mart&#237;nez-Gil"
                            2 => "M&#46;A&#46; Aibar-Arregui"
                            3 => "A&#46; Andr&#233;s-Gracia"
                            4 => "M&#46;A&#46; Torralba-Cabeza"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.rec.2016.07.001"
                      "Revista" => array:6 [
                        "tituloSerie" => "Rev Esp Cardiol"
                        "fecha" => "2017"
                        "volumen" => "70"
                        "paginaInicial" => "297"
                        "paginaFinal" => "299"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/27519456"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            11 => array:3 [
              "identificador" => "bib0140"
              "etiqueta" => "12"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Amyloidosis of the lung"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [
                            0 => "A&#46; Khoor"
                            1 => "T&#46; Colby"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.5858/arpa.2016-0102-RA"
                      "Revista" => array:6 [
                        "tituloSerie" => "Arch Pathol Lab Med"
                        "fecha" => "2017"
                        "volumen" => "141"
                        "paginaInicial" => "247"
                        "paginaFinal" => "254"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/28134587"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            12 => array:3 [
              "identificador" => "bib0145"
              "etiqueta" => "13"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Transthyretin V122I &#40;pV142I&#41;&#42; cardiac amyloidosis&#58; an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [
                            0 => "J&#46;N&#46; Buxbaum"
                            1 => "F&#46;L&#46; Ruberg"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1038/gim.2016.200"
                      "Revista" => array:6 [
                        "tituloSerie" => "Genet Med"
                        "fecha" => "2017"
                        "volumen" => "19"
                        "paginaInicial" => "733"
                        "paginaFinal" => "742"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/28102864"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            13 => array:3 [
              "identificador" => "bib0150"
              "etiqueta" => "14"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "H&#46; Reddi"
                            1 => "S&#46; Jenkins"
                            2 => "J&#46; Theis"
                            3 => "B&#46; Thomas"
                            4 => "L&#46;H&#46; Connors"
                            5 => "F&#46; Van Rhee"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.jmoldx.2013.08.001"
                      "Revista" => array:6 [
                        "tituloSerie" => "J Mol Diagn"
                        "fecha" => "2014"
                        "volumen" => "16"
                        "paginaInicial" => "68"
                        "paginaFinal" => "74"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/24184229"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            14 => array:3 [
              "identificador" => "bib0155"
              "etiqueta" => "15"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Non-biopsy diagnosis of cardiac transthyretin amyloidosis"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "J&#46; Gillmore"
                            1 => "M&#46; Maurer"
                            2 => "R&#46; Falk"
                            3 => "G&#46; Merlini"
                            4 => "T&#46; Damy"
                            5 => "A&#46; Dispenzieri"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1161/CIRCULATIONAHA.116.021612"
                      "Revista" => array:7 [
                        "tituloSerie" => "Circulation"
                        "fecha" => "2016"
                        "volumen" => "133"
                        "paginaInicial" => "2404"
                        "paginaFinal" => "2412"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/27143678"
                            "web" => "Medline"
                          ]
                        ]
                        "itemHostRev" => array:3 [
                          "pii" => "S0007091218303180"
                          "estado" => "S300"
                          "issn" => "00070912"
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            15 => array:3 [
              "identificador" => "bib0160"
              "etiqueta" => "16"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Addressing common questions encountered in the diagnosis and management of cardiac amyloidosis"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:5 [
                            0 => "M&#46; Maurer"
                            1 => "P&#46; Elliott"
                            2 => "R&#46; Comenzo"
                            3 => "M&#46; Semigran"
                            4 => "C&#46; Rapezzi"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1161/CIRCULATIONAHA.116.024438"
                      "Revista" => array:6 [
                        "tituloSerie" => "Circulation"
                        "fecha" => "2017"
                        "volumen" => "135"
                        "paginaInicial" => "1357"
                        "paginaFinal" => "1377"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/28373528"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
          ]
        ]
      ]
    ]
  ]
  "idiomaDefecto" => "en"
  "url" => "/22548874/0000021900000003/v1_201903280618/S2254887418301796/v1_201903280618/en/main.assets"
  "Apartado" => array:4 [
    "identificador" => "1903"
    "tipo" => "SECCION"
    "en" => array:2 [
      "titulo" => "Brief Original"
      "idiomaDefecto" => true
    ]
    "idiomaDefecto" => "en"
  ]
  "PDF" => "https://static.elsevier.es/multimedia/22548874/0000021900000003/v1_201903280618/S2254887418301796/v1_201903280618/en/main.pdf?idApp=WRCEE&text.app=https://revclinesp.es/"
  "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2254887418301796?idApp=WRCEE"
]
Article information
ISSN: 22548874
Original language: English
The statistics are updated each day
Year/Month Html Pdf Total
2023 March 1 4 5
2020 September 0 1 1
2018 November 1 2 3

Follow this link to access the full text of the article

Idiomas
Revista Clínica Española (English Edition)
es en

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?