Does the presence of a pathogenic sarcomere mutation increase heart failure events in patients with hypertrophic cardiomyopathy?
In patients with hypertrophic cardiomyopathy, the presence of any disease-causing sarcomere mutation is a clinically relevant predictor of increased heart failure events, regardless of the specific mutation type.
The presence of a pathogenic sarcomere mutation in patients with hypertrophic cardiomyopathy was associated with an increase in heart failure events, with no differences in event rates seen between myosin heavy chain and myosin-binding protein C genotype-positive patients. The presence of a disease-causing mutation seems more clinically relevant than the specific mutation itself.
Li et al. (Mon,) studied this question.