Key result
Pathogenic variants in genetic HCM show highly variable penetrance shaped by genetic and environmental factors.
Why the study?
The penetrance of P/LP variants is highly variable and influenced by undefined factors, leaving lifetime penetrance and drivers of disease transition incompletely understood.
What is the penetrance and rate of transition to disease in individuals with genetic variants for hypertrophic cardiomyopathy?
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.
Variable penetrance warrants cautious counseling and surveillance in HCM variant carriers; leaves open identification of modifiers.
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.
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Topriceanu et al. (2023) studied this question. Pathogenic and likely pathogenic variants in genetic hypertrophic cardiomyopathy exhibit highly variable penetrance influenced by undefined genetic and environmental factors.
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