Clinical characterisation of a novel <i>SCN5A</i> variant associated with progressive malignant arrhythmia and dilated cardiomyopathy.

Kean, Adam C; Helm, Benjamin M; Vatta, Matteo; Ayers, Mark D; Parent, John J; Darragh, Robert K

Clinical characterisation of a novel SCN5A variant associated with progressive malignant arrhythmia and dilated cardiomyopathy.

Kean, Adam C; Helm, Benjamin M; Vatta, Matteo; Ayers, Mark D; Parent, John J; Darragh, Robert K.

Afiliación

Kean AC; Department of Pediatrics, Division of Pediatric Cardiology, Pediatric Electrophysiology, Indiana University School of Medicine, Indianapolis, IN, USA.
Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
Vatta M; Department of Epidemiology, Fairbanks School of Public Health, Indiana University School of Medicine, Indianapolis, IN, USA.
Ayers MD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
Parent JJ; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Darragh RK; Department of Pediatrics, Division of Pediatric Cardiology, Pediatric Electrophysiology, Indiana University School of Medicine, Indianapolis, IN, USA.

Cardiol Young ; 29(10): 1257-1263, 2019 Oct.

Article en En | MEDLINE | ID: mdl-31477192

Asunto(s)

Arritmias Cardíacas/genética; Cardiomiopatía Dilatada/genética; ADN/genética; Mutación; Canal de Sodio Activado por Voltaje NAV1.5/genética; Adolescente; Arritmias Cardíacas/diagnóstico; Arritmias Cardíacas/metabolismo; Cardiomiopatía Dilatada/diagnóstico; Cardiomiopatía Dilatada/metabolismo; Niño; Preescolar; Análisis Mutacional de ADN; Ecocardiografía; Femenino; Predisposición Genética a la Enfermedad; Humanos; Lactante; Masculino; Canal de Sodio Activado por Voltaje NAV1.5/metabolismo; Linaje; Fenotipo; Adulto Joven

Palabras clave

SCN5A; dilated cardiomyopathy; sudden cardiac arrest

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Arritmias Cardíacas / ADN / Cardiomiopatía Dilatada / Canal de Sodio Activado por Voltaje NAV1.5 / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Cardiol Young Asunto de la revista: ANGIOLOGIA / CARDIOLOGIA / PEDIATRIA Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos

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