Fukuzawa Koji, Zorzi Alessandro, Migliore Federico, Rigato Ilaria, Bauce Barbara, Basso Cristina, Thiene Gaetano, Corrado Domenico
Department of Cardiac Thoracic and Vascular Sciences, University of Padua Medical School, University of Padua, Via Giustiniani 2, 35121, Padova, Italy.
Department of Medico-Diagnostic Sciences and Special Therapies, University of Padua Medical School, University of Padua, Via Gabelli 61, 35121, Italy.
Card Electrophysiol Clin. 2010 Dec;2(4):571-586. doi: 10.1016/j.ccep.2010.09.006.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inheritable heart muscle disease characterized by fibrofatty replacement of the right ventricle (RV) and by ventricular arrhythmias potentially leading to sudden cardiac death, mostly in young people and athletes. Later in the disease history, the RV becomes more diffusely involved and left ventricular involvement may result in biventricular heart failure. However, clinical diagnosis of ARVC is often difficult to make in the early stage of the disease because of the broad spectrum of phenotypic manifestations and the nonspecific nature of the disease features. In 1994, an international task force proposed criteria for the clinical diagnosis of ARVC, which have been recently revised to improve their sensitivity. Causative mutations have been identified in approximately half of patients with ARVC. Advances in molecular genetics of ARVC have provided important insight into our understanding of the pathogenesis and pathophysiology of ARVC, which has contributed to the improvement of clinical management. Therapeutic strategies for the prevention of sudden death and disease progression include antiarrhythmic drugs, catheter ablation, and use of an implantable cardioverter defibrillator (ICD). ICD is the most effective tool against arrhythmic sudden death. The implantation of an ICD should be carefully evaluated because of the possibility of device/lead-related complications and inappropriate interventions. This review article focuses on the most current knowledge regarding clinical presentation, diagnosis, molecular genetics, and management strategies of ARVC.
致心律失常性右室心肌病（ARVC）是一种遗传性心肌疾病，其特征为右心室（RV）的纤维脂肪组织替代以及可能导致心源性猝死的室性心律失常，多见于年轻人和运动员。在疾病后期，右心室受累范围更广，左心室受累可能导致双心室心力衰竭。然而，由于ARVC临床表现谱广且疾病特征具有非特异性，在疾病早期往往难以做出临床诊断。1994年，一个国际特别工作组提出了ARVC的临床诊断标准，最近这些标准已被修订以提高其敏感性。在大约一半的ARVC患者中已鉴定出致病突变。ARVC分子遗传学的进展为我们理解ARVC的发病机制和病理生理学提供了重要见解，这有助于改善临床管理。预防猝死和疾病进展的治疗策略包括抗心律失常药物、导管消融以及使用植入式心脏复律除颤器（ICD）。ICD是预防心律失常性猝死最有效的工具。由于存在设备/导线相关并发症和不适当干预的可能性，ICD植入应仔细评估。这篇综述文章聚焦于关于ARVC临床表现、诊断、分子遗传学和管理策略的最新知识。
