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Una nueva mutación en la desmoplaquina causa arritmogenia y cardiomiopatía ventricular izquierda
Mark Norman1, Michael Simpson, Jens Mogensen
1Department of Cardiological Sciences, St George's Hospital Medical School, London, England.
Circulation
|August 3, 2005
Resumen
Una nueva mutación del gen desmoplaquina causa cardiomiopatía aritmogénica del lado izquierdo (ARVC). Este defecto genético conduce a anormalidades cardíacas que afectan principalmente al ventrículo izquierdo, a diferencia de la típica enfermedad del ventrículo derecho.
Área de la Ciencia:
- Genética cardiovascular Genética cardiovascular
- Cardiología Molecular Cardiología Molecular
- La base genética de las enfermedades del corazón.
Sus antecedentes:
- La miocardiopatía ventricular derecha arritmogénica (CVRA) es una enfermedad familiar del músculo cardíaco que afecta principalmente al ventrículo derecho.
- Las mutaciones genéticas, particularmente en desmoplakin, se identifican cada vez más como causas de ARVC.
- Se reconocen variantes ventriculares izquierdas (LV) de ARVC, lo que requiere una mayor investigación sobre sus fundamentos genéticos.
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