Division of Cardiology, Department of Medicine, Johns Hopkins University, 600 N. Wolfe Street, Sheikh Zayed Tower 7125R, Baltimore, MD, USA.
Europace. 2019 Jan 1;21(1):9-21. doi: 10.1093/europace/euy063.
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a rare inherited heart muscle disease characterized by ventricular tachyarrhythmia, predominant right ventricular dysfunction, and sudden cardiac death. Its pathophysiology involves close interaction between genetic mutations and exposure to physical activity. Mutations in genes encoding desmosomal protein are the most common genetic basis. Genetic testing plays important roles in diagnosis and screening of family members. Syncope, palpitation, and lightheadedness are the most common symptoms. The 2010 Task Force Criteria is the standard for diagnosis today. Implantation of a defibrillator in high-risk patients is the only therapy that provides adequate protection against sudden death. Selection of patients who are best candidates for defibrillator implantation is challenging. Exercise restriction is critical in affected individuals and at-risk family members. Antiarrhythmic drugs and ventricular tachycardia ablation are valuable but palliative components of the management. This review focuses on the current diagnostic and therapeutic strategies in ARVD/C and outlines the future area of development in this field.
致心律失常性右室心肌病（ARVD/C）是一种罕见的遗传性心肌疾病，其特征为室性心动过速、心律失常、右心室功能障碍和心源性猝死。其病理生理学涉及基因突变与体力活动暴露之间的密切相互作用。桥粒蛋白基因突变是最常见的遗传基础。基因检测在诊断和家庭成员筛查中起着重要作用。晕厥、心悸和头晕是最常见的症状。2010 年工作组标准是目前的诊断标准。在高危患者中植入除颤器是唯一能充分预防猝死的治疗方法。选择最适合植入除颤器的患者是具有挑战性的。限制体力活动对于受影响个体和高危家族成员至关重要。抗心律失常药物和室性心动过速消融是有价值的，但只是管理的姑息性手段。本文重点介绍 ARVD/C 的当前诊断和治疗策略，并概述该领域的未来发展方向。
