Key result
MYBPC3 mutations in hypertrophic cardiomyopathy families showed incomplete penetrance (56.9%) that was higher in males (65.1% vs 48.1%, P=0.03) and older individuals (68.6% ≥40 vs 38.4% <40, P<0.001).
Population
167 individuals with cardiac myosin binding protein-C mutations associated with hypertrophic cardiomyopathy.
Design
Cohort
Follow-up
7.9+/-4.5 years
Authors
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Supports cautious cascade screening in MYBPC3 families; leaves open genetic and environmental modifiers of penetrance.
Cohort (n=167)
MYBPC3 mutations in hypertrophic cardiomyopathy exhibit marked clinical heterogeneity and incomplete, age- and gender-dependent penetrance, highlighting the need for careful cascade screening.
Page et al. (2012) conducted a cohort in Hypertrophic Cardiomyopathy (n=167). MYBPC3 mutations was evaluated on Disease penetrance and annual risk of sudden death and all cause mortality. MYBPC3 mutations in hypertrophic cardiomyopathy families showed incomplete penetrance (56.9%) that was higher in males (65.1% vs 48.1%, P=0.03) and older individuals (68.6% ≥40 vs 38.4% <40, P<0.001).
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