Abstract 14718: Mutations in the Gene Encoding Ribonucleic Binding Motif Protein 20 (RBM20) Are Frequent Causes of Dilated Cardiomyopathy in Denmark

Background: Dilated cardiomyopathy (DCM) is a hereditary cardiac condition characterized by unexplained heart failure with reduced ejection fraction. So far more than 100 DCM genes have been reported. However, only one regulatory gene (RBM20) has been identified as disease causing in DCM. This gene encodes a protein that regulates splicing of the largest human protein, titin, which forms part of the sarcomere cytoskeleton. Previous investigations have reported a frequency of RBM20 mutations in DCM patients of 1-3%. Aim: To investigate the frequency of RBM20 mutations in Danish DCM patients and characterize the disease expression among mutation carriers. Methods: One hundred thirteen consecutive DCM patients (probands) evaluated at a tertiary hospital underwent genetic investigations of 67 DCM genes by use of Next-Generation-Sequencing. When a disease-causing mutation was identified, genetic cascade screening of relatives were offered. All family members were offered clinical investigations including ECG-r...