What is the penetrance and rate of transition to disease in individuals with genetic variants for hypertrophic cardiomyopathy?
The penetrance of genetic variants for hypertrophic cardiomyopathy is highly variable, highlighting a gap in understanding the transition from subclinical to overt disease.
The penetrance of P/LP variants is highly variable and influenced by currently undefined and context-dependent genetic and environmental factors. Additional longitudinal studies are needed to improve our understanding of true lifetime penetrance in families and in the community and to identify drivers of the transition from subclinical to overt HCM.
Topriceanu et al. (2023) studied this question.