Kaplan-Meier curves illustrate RBM20 truncating variant penetrance. Graphs A & B show survival free from Arrhythmogenic DCM & AF diagnosis for RBM20sv, RBM20tv, and TTNtv variants. C & D show survival free from MHFVA & MHF composite for P/LP, Truncating, and VUS variants.
RBM20 truncating variants were associated with reduced lifetime penetrance and milder disease in #DilatedCardiomyopathy compared to pathogenic RBM20 or titin variants, suggesting a low-effect role in arrhythmogenic cardiomyopathy. ja.ma/4ttY8ki