Familial <i>RBM20</i>-cardiomyopathy: various clinical phenotypes. Case report

Abstract

Genetic causes are increasingly found to be responsible for the development of sudden death in young people. Since 2009, pathogenic mutations in RBM20 gene were recognized as an important cause of dilated cardiomyopathy (DCM) and sudden cardiac death (SCD). The high risk of malignant ventricular arrhythmias in RBM20-cardiomyopathy has made these patients potential candidates for the implantable cardioverter-defibrillator for primary prevention of SCD. The presented clinical case of malignant pathogenic mutation in the RBM20 gene demonstrates different phenotypes, including DCM, SCD and asymptomatic forms in one family. Moreover, for the first time we described the presence of prolonged QT interval due to the fusion with U wave on ECG in carries of this malignant familial mutation. The prolonged QT interval may contribute to the development of ventricular arrhythmias and the increased risk of SCD in patients with this rare genetic pathology.