Paul M, Wichter T, Fabritz L, Waltenberger J, Schulze-Bahr E, Kirchhof P
Division of Cardiology, Department of Cardiovascular Medicine, University Hospital Münster, Albert-Schweitzer-Campus 1 (Gebäude A1), 48149, Münster, Germany.
Herzschrittmacherther Elektrophysiol. 2012 Sep;23(3):186-95. doi: 10.1007/s00399-012-0233-7. Epub 2012 Sep 26.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy accounting for life-threatening ventricular tachyarrhythmias and sudden death in young individuals and athletes. Over the past years, mutations in desmosomal genes have been identified as disease-causative. However, genetic heterogeneity and variable phenotypic expression alongside with diverse disease progression still render the evaluation of its prognostic implication difficult. ARVC was initially entered into the canon of cardiomyopathies of the World Health Organization in 1995, and international efforts have resulted in the 2010 modified diagnostic criteria for ARVC. Despite all additional insights into pathophysiology, clinical management, and modern risk stratification, under-/misdiagnosing of ARVC remains a problem and hampers reliable statements on the incidence, prevalence, and natural course of the disease.This review provides a comprehensive overview of the current literature on the pathogenesis, diagnosis, treatment, and prognosis of ARVC and sheds some light on potential new developments in these areas.
致心律失常性右室心肌病(ARVC)是一种遗传性心肌病,可导致年轻个体和运动员出现危及生命的室性快速心律失常和猝死。在过去几年中,已确定桥粒基因的突变是致病原因。然而,基因异质性、可变的表型表达以及多样的疾病进展仍然使得评估其预后意义变得困难。ARVC最初于1995年被纳入世界卫生组织的心肌病分类标准,国际上的努力促成了2010年ARVC修订诊断标准的出台。尽管对病理生理学、临床管理和现代风险分层有了更多认识,但ARVC的漏诊/误诊仍然是一个问题,阻碍了对该疾病发病率、患病率和自然病程的可靠描述。本综述全面概述了目前关于ARVC发病机制、诊断、治疗和预后的文献,并对这些领域潜在的新进展进行了一些探讨。