Division of Cardiology, Department of Medicine, Johns Hopkins Medical Institutions, Baltimore, Maryland 21287, USA; email:
Annu Rev Med. 2019 Jan 27;70:1-18. doi: 10.1146/annurev-med-041217-010932. Epub 2018 Oct 24.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease characterized by fibrofatty replacement of the ventricular myocardium, a high risk of ventricular arrhythmias, and progressive ventricular dysfunction. The clinical course is highly variable, and optimal approaches to management remain undefined. ARVC is associated with pathogenic variants in genes encoding the cardiac desmosome. Genetic testing facilitates identification of at-risk family members, but penetrance of ARVC in pathogenic variant carriers is difficult to predict. Participation in endurance exercise is a known key risk factor. However, there remains significant uncertainty about which family member will develop disease and how best to approach longitudinal screening. Our clinically focused review describes how new insights gained from natural history studies, improved understanding of pathogenic mechanisms, and appreciation of genetic and environmental modifiers have set the stage for developing personalized approaches to managing both ARVC patients and their at-risk family members.
致心律失常性右室心肌病（ARVC）是一种遗传性心脏病，其特征为心室心肌的纤维脂肪替代、室性心律失常风险高以及进行性心室功能障碍。其临床病程变化较大，最佳的管理方法仍不明确。ARVC 与编码心脏桥粒的基因中的致病性变异有关。基因检测有助于确定有风险的家族成员，但致病性变异携带者中 ARVC 的外显率难以预测。参与耐力运动是一个已知的关键风险因素。然而，对于哪些家族成员会患上疾病以及如何最好地进行纵向筛查，仍然存在很大的不确定性。我们的临床重点综述描述了从自然病史研究中获得的新见解、对致病机制的更好理解以及对遗传和环境修饰物的认识，为制定管理 ARVC 患者及其有风险的家族成员的个性化方法奠定了基础。
