Key result
Cardiac evaluation diagnosed hypertrophic cardiomyopathy in 41% of asymptomatic mutation carriers, with disease penetrance being age-dependent and men more often affected than women (P=0.04).
Observational (n=76)
In asymptomatic HCM mutation carriers, disease penetrance is 41%, age-dependent, and higher in men, with risk factors for sudden cardiac death present even in unaffected carriers.
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May support screening asymptomatic mutation carriers; leaves open prospective validation of age- and sex-specific penetrance and SCD risk.
Michels et al. (2009) conducted an observational in Asymptomatic hypertrophic cardiomyopathy mutation carriers (n=76). Cardiac evaluation was evaluated on Diagnosis of hypertrophic cardiomyopathy. Cardiac evaluation diagnosed hypertrophic cardiomyopathy in 41% of asymptomatic mutation carriers, with disease penetrance being age-dependent and men more often affected than women (P=0.04).