Hypertrophic Cardiomyopathy

Excerpt

Hypertrophic cardiomyopathy (HCM) is a genetic (autosomal dominant) heart muscle disease caused by a mutation in sarcomere protein genes which encodes for elements of the contractile machinery of the heart. It is characterized by an increase in left ventricular wall thickness (hypertrophy) which causes left ventricular outflow obstruction, diastolic dysfunction, myocardial ischemia, and mitral regurgitation.

These structural and function abnormalities can produce fatigue, dyspnea, chest pain, palpitations, and syncope. Sudden cardiac death can represent the most devastating presenting manifestation, especially in young athletes.