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La enfermedad de Danon como una causa poco reconocida de cardiomiopatía hipertrófica en niños
Zhao Yang1, Colin J McMahon, Liana R Smith
1Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA.
Circulation
|September 8, 2005
Resumen
Las mutaciones genéticas de la proteína-2 asociada al lisosoma (LAMP-2) se encuentran en el 4% de los pacientes con cardiomiopatía hipertrófica pediátrica (HCM), lo que indica que la enfermedad de Danon a menudo se pasa por alto en niños con HCM, miopatía esquelética o síndrome de Wolff-Parkinson-White.
Área de la Ciencia:
- Genética La genética.
- Cardiología Cardiología.
- Enfermedades raras Las enfermedades raras son enfermedades raras.
Sus antecedentes:
- La cardiomiopatía hipertrófica (HCM) y la hipertrofia ventricular izquierda pueden ocurrir simultáneamente con la miopatía esquelética y el síndrome de Wolff-Parkinson-White (WPW).
- Las mutaciones en el gen de la proteína-2 asociada al lisosoma (LAMP-2) están vinculadas a estas condiciones combinadas, lo que sugiere la enfermedad de Danon.
- Este estudio tuvo como objetivo determinar la prevalencia de mutaciones LAMP2 en pacientes pediátricos con CMH.
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