Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.
Mimount BourfissMarion van VugtAbdulrahman I AlasiriBram RuijsinkJessica van SettenAmand Floriaan SchmidtDennis DooijesEsther Puyol-AntónBirgitta K Velthuisvan J Peter TintelenAnneline S J M Te RieleAnnette F BaasFolkert W. AsselbergsPublished in: Circulation. Genomic and precision medicine (2022)
In the general population, pathogenic and likely pathogenic variants associated with ARVC, DCM, or HCM are not uncommon. Although G+ have increased mortality and morbidity, disease penetrance in these carriers from the general population remains low (1.2-3.1%). Follow-up decisions in case of incidental findings should not be based solely on a variant, but on multiple factors, including family history and disease expression.