Recent advances in genetics and treatment of hypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy (HCM) is an intriguing disease with various clinical manifestations, ranging from sudden cardiac death to heart failure. The molecular genetics of HCM are all but elucidated and over 200 mutations in more than a dozen genes have been identified. Conventional therapeutic agents, namely beta-blockers and calcium channel blockers, could provide symptomatic relief but are not known to reduce mortality or induce regression of phenotype. Studies in genetic animal models suggest cardiac hypertrophy and fibrosis, a major histological feature of HCM, may be reversed or prevented through blockade of molecules involved in the pathogenesis of HCM. Surgical myomectomy and ethanol-induced septal ablation are effective procedures for reducing the left ventricular outflow tract obstruction and hence, symptomatic improvement. Randomized studies are needed to compare the effectiveness of medical therapy, ethanol septal ablation and surgical myomectomy in treatment of patients with HCM.
Marian
Aj
A
Baylor College of Medicine, One Baylor Plaza, 519D Houston, TX 77030, USA. amarian@bcm.tmc.edu