[Hypertrophic cardiomyopathy. Genetic basis and clinical implications].
Thanks to advances in molecular biology during the last decade, the etiology of hypertrophic cardiomyopathy has been elucidated. Although more than 150 causal mutations of 9 genes that encode contractile proteins have been identified, many of the pathogenetic mechanisms remain unclear. In this review we discuss the current state of knowledge of the functional effects of some mutations, particularly two of the most lethal beta-myosin mutations -Arg403Gln and Arg723Gly (Barcelona mutation)- and their contributions to the pathogenesis of hypertrophy, sudden death and ischemia. Their potential roles in diagnostic and therapeutic strategies are emphasized.
Navarro-López
Francisco
F
Servicio de Cardiología (ICMCV), Hospital Clínic (IDIBAPS), Universidad de Barcelona, Barcelona, Spain. navarro@medicina.ub.es
D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D006801:Humans; D009154:Mutation