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Am J Med Genet A ; 152A(3): 607-12, 2010 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-20186837

RESUMEN

In potentially inherited cardiac diseases, the family history is of great importance. We looked at the way cardiologists take a family history in patients with idiopathic dilated cardiomyopathy (DCM) or long QT syndrome (LQTS) and whether this led to screening of relatives or other follow-up. We performed retrospective cross-sectional analyses of adult index patients with DCM or LQTS in a general hospital (GH) or a University Medical Center (UMC). We identified 82 index patients with DCM (34 GH; 48 UMC) and 20 with LQTS (all UMC) between 1996 and 2005. Mean follow-up was 58 months. A family history was recorded in 90% of both LQTS and DCM patients most of the cases restricted to first-degree family members. The genetic aspects, counseling and screening of family members was discussed significantly more often with LQTS than DCM patients (all P < 0.05). Also follow-up (screening of family members, DNA analysis and referral) was performed significantly more often in LQTS than DCM patients. Cardiologists in the UMC referred DCM index patients for genetic counseling more often than those in the GH (25% vs. 6%; P < 0.05). Only a few index patients with DCM were referred to a clinical genetics department. One-third of DCM cases and nearly all LQTS cases are familial. Since early recognition and treatment may reduce morbidity and mortality we recommend cardiologists take a more thorough family history and always consider referring to a clinical genetics department in such index patients.


Asunto(s)
Cardiomiopatía Dilatada/genética , Síndrome de QT Prolongado/genética , Centros Médicos Académicos , Adulto , Cardiomiopatía Dilatada/diagnóstico , Estudios Transversales , Composición Familiar , Femenino , Asesoramiento Genético , Pruebas Genéticas , Hospitales Generales , Humanos , Síndrome de QT Prolongado/diagnóstico , Masculino , Anamnesis , Persona de Mediana Edad , Países Bajos , Derivación y Consulta , Estudios Retrospectivos , Factores de Riesgo
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