Report RBM20 mutation and ventricular arrhythmias in a young patient with dilated a case report

被引:0
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作者
Liatakis, Ioannis [1 ]
Prappa, Efstathia [1 ]
Gouziouta, Aggeliki [2 ]
Pantou, Malena P. [3 ]
Gourzi, Polyxeni [3 ]
Vlachos, Konstantinos [4 ]
Mililis, Panagiotis [1 ]
Kariki, Ourania [4 ]
Degiannis, Dimitrios [3 ]
Efremidis, Michael [4 ]
Letsas, Konstantinos P. [4 ]
机构
[1] Evangelismos Gen Hosp, Dept Cardiol 2, Athens, Greece
[2] Onassis Cardiac Surg Ctr, Heart Failure Unit, Athens, Greece
[3] Onassis Cardiac Surg Ctr, Div Genet, Mol Immunopathol & Histocompatibil Unit, Athens, Greece
[4] Onassis Cardiac Surg Ctr, Lab Cardiac Electphysiol, Arrhythmia Unit, 356 Syngrou Av, GR-17674 Athens, Greece
来源
关键词
RBM20; gene; cardiomyopathy; ventricular arrhythmias; mutation; CARDIOMYOPATHY; GENE;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
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页码:398 / 403
页数:6
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