RBM20 Truncating Variants in Dilated Cardiomyopathy: Reduced Penetrance and Milder Phenotype Compared to Missense Variants

Highlights

1. RBM20 truncating variants (RBM20tvs) contribute to arrhythmogenic dilated cardiomyopathy but with reduced lifetime penetrance compared to titin truncating variants (TTNtvs).

2. Patients with RBM20tvs present later in life and have less family history of sudden cardiac arrest or cardiomyopathy compared to those with pathogenic missense variants.