Hypertrophic Cardiomyopathy Etiology, Diagnosis, and Treatment

Hypertrophic cardiomyopathy (HCM) is a disease characterized by primary hypertrophy of the left (and sometimes right) ventricle. The clinical manifestations of the disease are dyspnea, angina, and a continuum encompassing lightheadedness, presyncope, syncope, and sudden death. Although HCM is often caused by an identifiable mutation in a gene coding for a sarcomeric protein and inherited in an autosomal-dominant pattern, many patients do not have any relatives in whom the disease is manifest. The prevalence of HCM is estimated to be 0.2%, with nearly 600,000 Americans affected. This limited exposure of clinicians to HCM understandably accounts for the uncertainty that prevails regarding this disease and its management.