Hypertrophic cardiomyopathy, defined as unexplained left ventricular hypertrophy, has an estimated prevalence of at least 1 in 500 and is among the most common forms of inherited heart disease.1 The pathophysiology of hypertrophic cardiomyopathy is complex and involves the interplay between diastolic dysfunction, myocardial ischemia, systolic anterior motion of the mitral valve resulting in outflow tract obstruction, and arrhythmia.2 Clinical presentations are heterogeneous and range from asymptomatic to palpitations, dyspnea, exercise intolerance, chest pain, syncope, and sudden death. Although the absolute risk of cardiac mortality is less than 1% per year,3 hypertrophic cardiomyopathy remains a common cause of sudden cardiac death in the young, especially in competitive athletes.4,5 Since hypertrophic cardiomyopathy has autosomal dominant inheritance, relatives of affected individuals have substantial risk of disease. Clinical evaluation of family members and cascade screening with genetic testing can identify those affected, many of whom are asymptomatic. When properly treated, the majority of patients with hypertrophic cardiomyopathy will have a normal life span.3
Owens AT, Cappola TP. Recreational Exercise in Hypertrophic Cardiomyopathy. JAMA. 2017;317(13):1319–1320. doi:10.1001/jama.2017.2584
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