November 6, 2023Open Access
View Full PaperMeta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy
Structured PICO
What is the penetrance and rate of transition to disease in individuals with genetic variants for hypertrophic cardiomyopathy?
P
Population
Individuals with pathogenic/likely pathogenic (P/LP) variants for genetic hypertrophic cardiomyopathy (HCM)
O
Outcome
Penetrance of P/LP variants and transition from subclinical to overt HCM
The penetrance of genetic variants for hypertrophic cardiomyopathy is highly variable, highlighting a gap in understanding the transition from subclinical to overt disease.
Abstract
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.