Hypertrophic Cardiomyopathy in 2012

Case presentation: A healthy 32-year-old man presents for evaluation of exertional dyspnea and syncope. A murmur is noted, and echocardiography reveals marked septal hypertrophy with a resting left ventricular outflow tract gradient of 68 mm Hg (online-only Data Supplement Movie I and Figure I). His father died of an MI at 38 years of age, and his paternal uncle died as the driver in a single-car accident at 30 years of age. His younger brother is thought to have athlete's heart (Figure 1A). After discussing his diagnosis of hypertrophic cardiomyopathy and implications for his family, he asks, “What will happen to my kids? Will I be able to feel well enough to exercise again?”Figure 1. Family management in hypertrophic cardiomyopathy (HCM). A , Pedigree based on clinical evaluation: The proband (arrowhead) presented with symptoms, physical examination, and echocardiogram diagnostic for HCM. There are 6 other family members at risk for HCM (arrows). The diagnosis of athlete's heart in his brother (a recreational athlete) is ambiguous. Guidelines recommend longitudinal clinical screening for his 4 first-degree relatives (children and siblings [*]).1 B , Pedigree based on clinical and genetic evaluation: A pathogenic myosin heavy chain ( MYH7 ) mutation was identified in the proband and predictive genetic testing performed in first-degree relatives. Longitudinal clinical screening can now be focused on mutation carriers (+). Relatives who have not inherited the family's pathogenic mutation (−) are not at risk for developing HCM or transmitting risk to their children. Only the proband's daughter, the 1 mutation carrier currently without evidence of clinical HCM (arrow), is at risk and requires prospective serial follow-up (*) to monitor for disease development. His brother's diagnosis is clarified as HCM and appropriate care instituted. Circles indicates females; squares, males; solid symbols, clinical diagnosis of HCM; gray symbol, unclear clinical phenotype; slash, …