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HCM is conventionally understood as a cardiac disease inherited in an autosomal dominant fashion with incomplete penetrance. Over the past two decades, genetic research has established that HCM has considerable allelic and non-allelic heterogeneity. For the majority of patients, outside of its utility in pre-symptomatic screening, a genetic diagnosis has not made important contributions to clinical management. In large part, this is because most proband patients have apparently unique mutations, and because the fidelity between genotype and phenotype has been poor in families and for mutations studied thus far. Over the last 20 years, the di

Introduction Hypertrophic cardiomyopathy (HCM) is an inherited cardiac muscle disorder, transmitted predominantly in an autosomal dominant fashion with variable penetrance and an estimated prevalence of one in 500 in the western population.1 Myocardial hypertrophy most commonly affects the interventricular septum and may be associated with dynamic obstruction of the left ventricular outflow tract (LVOT),2 caused by systolic anterior motion (SAM) of the mitral valve leaflets. LVOT obstruction may occur at rest or only become apparent during physiological stress. Symptoms related to LVOT obstruction include dyspnoea, exertional chest pain, pre-

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