Image in cardiology
Novel mutation in the KCNH2 gene associated with long QT syndrome
Nova mutação identificada no gene KCNH2 associado à síndrome do QT longo
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"Ferreira" ] 1 => array:2 [ "nombre" => "Lígia" "apellidos" => "Mendes" ] 2 => array:2 [ "nombre" => "Luís" "apellidos" => "Soares" ] 3 => array:2 [ "nombre" => "Maria" "apellidos" => "da Graça Correia" ] 4 => array:2 [ "nombre" => "Victor" "apellidos" => "Gil" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2174204913000457?idApp=UINPBA00004E" "url" => "/21742049/0000003200000002/v1_201305171228/S2174204913000457/v1_201305171228/en/main.assets" ] "en" => array:15 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Image in cardiology</span>" "titulo" => "Novel mutation in the <span class="elsevierStyleItalic">KCNH2</span> gene associated with long QT syndrome" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "163" "paginaFinal" => "164" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Doroteia Silva, Gabriel Miltenberger-Miltenyi, Maria José Correia, António Nunes Diogo" "autores" => array:4 [ 0 => array:4 [ "nombre" => "Doroteia" "apellidos" => "Silva" "email" => array:1 [ 0 => "dojreis@hotmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">¿</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Gabriel" "apellidos" => "Miltenberger-Miltenyi" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "Maria José" "apellidos" => "Correia" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 3 => array:3 [ "nombre" => "António Nunes" "apellidos" => "Diogo" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Cardiology Department, Santa Maria University Hospital, Lisbon North Hospital Centre, Lisbon, Portugal" "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Institute of Molecular Medicine and Diagnostic Laboratory of Molecular Medicine (GenoMed), Lisbon, Portugal" "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "pt" => array:1 [ "titulo" => "Nova mutação identificada no gene <span class="elsevierStyleItalic">KCNH2</span> associado à síndrome do QT longo" ] ] "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" => 3035 "Ancho" => 3000 "Tamanyo" => 1065308 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A) and (B) The first two electrocardiograms, with corrected QT interval between 428 and 468 ms. (C) The novel mutation identified in exon 4 of the <span class="elsevierStyleItalic">KCNH2</span> gene.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">A 37-year-old man was admitted to our department after an episode of rapid regular palpitations, triggered by emotional stress. He had no previous symptoms and was not taking any medication. There was no relevant family history. The first two electrocardiograms documented sinus rhythm and a pattern of abnormal repolarization with ST-segment elevation. The corrected QT interval (QTc) was between 428 and 468 ms (<a class="elsevierStyleCrossRef" href="#fig0005">Figure 1</a>A and B). Laboratory tests showed no abnormalities and exercise testing was normal. Holter monitoring documented intermittent QTc prolongation (maximum 580 ms), with no other abnormalities. Screening for mutations in the <span class="elsevierStyleItalic">KCNQ1</span>, <span class="elsevierStyleItalic">KCNH2</span>, <span class="elsevierStyleItalic">SCN5A</span> and <span class="elsevierStyleItalic">KCNE1</span> genes for LQT1, LQT2, LQT3 and LQT5 variants of long QT syndrome (LQTS) revealed a c.529G>T (p.Glu177X) mutation in heterozygosity in the <span class="elsevierStyleItalic">KCNH2</span> gene of LQT2 (<a class="elsevierStyleCrossRef" href="#fig0005">Figure 1</a>C). This variant has not been previously reported, but, since it produces a premature STOP codon, there is a high probability that it is actually pathogenic. The patient was discharged home on beta-blocker therapy and with information on drugs that prolong QT, to be avoided. Clinical and molecular study of first-degree relatives is currently under way.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">LQTS patients can have intermittent QT prolongation, but they are at risk for ventricular arrhythmias that can be triggered by various stimuli and by drugs that prolong QT.</p><p id="par0015" class="elsevierStylePara elsevierViewall">Most drugs that prolong QT act by blocking the Ikr ionic current, encoded by the <span class="elsevierStyleItalic">KCNH2</span> gene. In our patient, intermittent QT prolongation was documented and a novel <span class="elsevierStyleItalic">KCNH2</span> mutation was identified, enabling arrhythmia prevention therapy to be initiated.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Ethical disclosures</span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Protection of human and animal subjects</span><p id="par0020" class="elsevierStylePara elsevierViewall">The authors declare that no experiments were performed on humans or animals for this study.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Confidentiality of data</span><p id="par0040" class="elsevierStylePara elsevierViewall">The authors declare that they have followed the protocols of their work center on the publication of patient data and that all the patients included in the study received sufficient information and gave their written informed consent to participate in the study.</p><p id="par0045" class="elsevierStylePara elsevierViewall">Right to privacy and informed consent. The authors have obtained the written informed consent of the patients or subjects mentioned in the article. The corresponding author is in possession of this document.</p></span></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Conflicts of interest</span><p id="par0035" class="elsevierStylePara elsevierViewall">The authors have no conflicts of interest to declare.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:2 [ 0 => array:3 [ "identificador" => "sec0005" "titulo" => "Ethical disclosures" "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0010" "titulo" => "Protection of human and animal subjects" ] 1 => array:2 [ "identificador" => "sec0015" "titulo" => "Confidentiality of data" ] ] ] 1 => array:2 [ "identificador" => "sec0025" "titulo" => "Conflicts of interest" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2012-06-10" "fechaAceptado" => "2012-06-18" "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 3035 "Ancho" => 3000 "Tamanyo" => 1065308 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A) and (B) The first two electrocardiograms, with corrected QT interval between 428 and 468 ms. (C) The novel mutation identified in exon 4 of the <span class="elsevierStyleItalic">KCNH2</span> gene.</p>" ] ] ] ] "idiomaDefecto" => "en" "url" => "/21742049/0000003200000002/v1_201305171228/S2174204913000469/v1_201305171228/en/main.assets" "Apartado" => array:4 [ "identificador" => "9915" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Images in cardiology" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/21742049/0000003200000002/v1_201305171228/S2174204913000469/v1_201305171228/en/main.pdf?idApp=UINPBA00004E&text.app=https://revportcardiol.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2174204913000469?idApp=UINPBA00004E" ]
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| 2016 August | 9 | 3 | 12 |
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| 2016 February | 24 | 11 | 35 |
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| 2015 October | 29 | 8 | 37 |
| 2015 September | 21 | 4 | 25 |
| 2015 August | 22 | 5 | 27 |
| 2015 July | 19 | 5 | 24 |
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| 2015 April | 28 | 5 | 33 |
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| 2015 January | 36 | 3 | 39 |
| 2014 December | 16 | 6 | 22 |
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| 2014 August | 15 | 3 | 18 |
| 2014 July | 29 | 12 | 41 |
| 2014 June | 15 | 3 | 18 |
| 2014 May | 32 | 4 | 36 |
| 2014 April | 8 | 5 | 13 |
| 2014 March | 31 | 18 | 49 |
| 2014 February | 27 | 6 | 33 |
| 2014 January | 30 | 13 | 43 |
| 2013 December | 27 | 7 | 34 |
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| 2013 October | 21 | 11 | 32 |
| 2013 September | 26 | 12 | 38 |
| 2013 August | 41 | 9 | 50 |
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| 2013 May | 26 | 5 | 31 |
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