RBM20 Mutation and Ventricular Arrhythmias in a Young Patient with Dilated Cardiomyopathy: a Case Report

Overview

Journal Am J Cardiovasc Dis

Specialty Cardiology & Vascular Diseases

Date 2021 Jul 29

PMID 34322310

Citations 2

Authors

Ioannis Liatakis

Efstathia Prappa

Aggeliki Gouziouta

Malena P Pantou

Polyxeni Gourzi

Konstantinos Vlachos

Panagiotis Mililis

Ourania Kariki

Dimitrios Degiannis

Michael Efremidis

Konstantinos P Letsas

Affiliations

Soon will be listed here.

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.

Citing Articles

[Research progress on the expression of the gene in dilated cardiomyopathy].

Lin X Zhongguo Dang Dai Er Ke Za Zhi. 2023; 25(10):1084-1088.

PMID: 37905768 PMC: 10621058. DOI: 10.7499/j.issn.1008-8830.2306087.

Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family.

Malakootian M, Moghaddam M, Kalayinia S, Farrashi M, Maleki M, Sadeghipour P BMC Med Genomics. 2022; 15(1):106.

PMID: 35527250 PMC: 9079971. DOI: 10.1186/s12920-022-01262-4.

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