Familial hypertrophic cardiomyopathy - A case report

Familial hypertrophic cardiomyopathy is an autosomal dominant disorder manifesting as cardiac hypertrophy with myocyte disarray and an increased risk of sudden death. Only few cases have been reported with variable cardiac phenotype in familial HCM. Factors that account for the variability are largely unknown. The variability may be due to the diversity of the causal genes and mutations and effects of the modifier genes and environmental factors. Here we are presenting a case of familial hypertrophic cardiomyopathy with variable phenotypic expression of a patient who was admitted for sudden loss of consciousness and altered sensorium.