| Literature DB >> 34322310 |
Ioannis Liatakis1, Efstathia Prappa1, Aggeliki Gouziouta2, Malena P Pantou3, Polyxeni Gourzi3, Konstantinos Vlachos4, Panagiotis Mililis1, Ourania Kariki4, Dimitrios Degiannis3, Michael Efremidis4, Konstantinos P Letsas4.
Abstract
Gene mutations in RBM20 have been identified in a minority of familial and sporadic dilated cardiomyopathy cases. Recent studies of carriers of RBM20 mutations not only highlight the aforementioned association with dilated cardiomyopathy but also indicate a link with increased incidence of ventricular arrhythmias. Herein we describe a case of 17-year-old female patient with dilated cardiomyopathy carrying a p.(Arg634Trp) RBM20 mutation and presenting with frequent premature ventricular contractions and episodes of non-sustained ventricular tachycardia. AJCDEntities:
Keywords: RBM20 gene; cardiomyopathy; mutation; ventricular arrhythmias
Year: 2021 PMID: 34322310 PMCID: PMC8303033
Source DB: PubMed Journal: Am J Cardiovasc Dis ISSN: 2160-200X