Hypertrophic Cardiomyopathy

This chapter presents information on incidence, etiology, and genetics, anatomy, pathophysiology, clinical presentation, and imaging of hypertrophic cardiomyopathy (HCM). HCM is the most common form of heart muscle disease affecting children and is the leading cause of sudden death in young athletes. Primary HCM is an autosomal dominant condition characterized by hypertrophy of the left ventricle, interventricular septum, and only occasionally right ventricular involvement. Most patients with HCM demonstrate abnormalities of diastolic function. Myocardial ischemia may occur in patients with HCM. Most patients with HCM are asymptomatic or only mildly symptomatic and are often identified during screening of relatives of a patient with HCM or because of an abnormal electrocardiogram. Complete evaluation of the child with HCM includes M‐mode, 2D imaging, Doppler evaluation of the mitral inflow and left ventricle outflow tract, tissue Doppler imaging, and deformation imaging. Management in HCM is optimized by monitoring changes and the response to therapy with serial echocardiographic studies.