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一种新型移码突变所致致心律失常性右室心肌病

Arrhythmogenic Right Ventricular Cardiomyopathy Caused by a Novel Frameshift Mutation.

作者信息

Refaat Marwan M, Tang Paul, Harfouch Nassier, Wojciak Julianne, Kwok Pui-Yan, Scheinman Melvin

机构信息

Division of Cardiology, Department of Internal Medicine, American University of Beirut Medical Center, PO Box 11-0236, Riad el Solh, Beirut 1107.2020, Lebanon; Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon; Cardiac Electrophysiology, Cardiology, Department of Internal Medicine, American University of Beirut Faculty of Medicine and Medical Center, 3 Dag Hammarskjold Plaza, 8th Floor, New York, NY 10017, USA.

Institute for Human Genetics, University of California, San Francisco, CA, USA.

出版信息

Card Electrophysiol Clin. 2016 Mar;8(1):217-21. doi: 10.1016/j.ccep.2015.10.033. Epub 2016 Jan 16.

DOI:10.1016/j.ccep.2015.10.033
PMID:26920198
Abstract

Arrhythmogenic right ventricular cardiomyopathy is a rare cardiomyopathy that might be asymptomatic or symptomatic, causing palpations or syncope, and might lead to sudden cardiac death. It is recommended that physical exertion be reduced. It is also recommended that those with syncope and ventricular tachycardia/ventricular fibrillation have an implantable cardioverter-defibrillator placed. β-Blockers, antiarrhythmic drugs, and radiofrequency ablation should be used to control the ventricular arrhythmia burden in arrhythmogenic right ventricular cardiomyopathy.

摘要

致心律失常性右室心肌病是一种罕见的心肌病,可能无症状或有症状,导致心悸或晕厥,并可能导致心源性猝死。建议减少体力活动。还建议有晕厥和室性心动过速/室颤的患者植入植入式心律转复除颤器。β受体阻滞剂、抗心律失常药物和射频消融应用于控制致心律失常性右室心肌病的室性心律失常负荷。

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引用本文的文献

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Arrhythmogenic right ventricular cardiomyopathy characterized by recurrent syncope during exercise: A case report.以运动期间反复晕厥为特征的致心律失常性右室心肌病:一例报告。
World J Clin Cases. 2021 Jun 6;9(16):4095-4103. doi: 10.12998/wjcc.v9.i16.4095.
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Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases.黎巴嫩的非家族性心肌病:五个特发性病例的外显子组测序结果。
BMC Med Genomics. 2019 Feb 14;12(1):33. doi: 10.1186/s12920-019-0478-7.