Oomen Ad W G J, Semsarian Christopher, Puranik Rajesh, Sy Raymond W
Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia.
Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia; Sydney Medical School, University of Sydney, Sydney, NSW, Australia; Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, NSW, Australia.
Heart Lung Circ. 2018 Nov;27(11):1310-1317. doi: 10.1016/j.hlc.2018.03.023. Epub 2018 Apr 4.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy that predominantly affects the right ventricle. With a prevalence in the range of 1:5000 to 1:2000 persons, ARVC is one of the leading causes of sudden cardiac death in young people and in athletes. Although early detection and treatment is important, the diagnosis of ARVC remains challenging. There is no single pathognomonic diagnostic finding in ARVC; rather, current international task force criteria specify diagnostic major and minor criteria in six categories: right ventricular imaging (including echocardiography and cardiac magnetic resonance imaging (MRI)), histology, repolarisation abnormalities, depolarisation and conduction abnormalities, arrhythmias and family history (including genetic testing). Combining findings from differing diagnostic modalities can establish a "definite", "borderline" or "possible" diagnosis of ARVC. However, there are limitations inherent in the current task force criteria, including the lack of specificity for ARVC; future iterations may be improved, for example, by enhanced imaging protocols able to detect subtle changes in the structure and function of the right ventricle, incorporation of electro-anatomical data, response to adrenergic challenge, and validated criteria for interpreting genetic variants.
致心律失常性右室心肌病（ARVC）是一种主要累及右心室的遗传性心肌病。ARVC的患病率在1/5000至1/2000人之间，是年轻人和运动员心源性猝死的主要原因之一。尽管早期检测和治疗很重要，但ARVC的诊断仍然具有挑战性。ARVC没有单一的特征性诊断发现；相反，当前国际工作组标准在六个类别中规定了主要和次要诊断标准：右心室成像（包括超声心动图和心脏磁共振成像（MRI））、组织学、复极异常、去极化和传导异常、心律失常以及家族史（包括基因检测）。结合不同诊断方式的结果可以确立ARVC的“明确”、“临界性 ”或“可能”诊断。然而，当前工作组标准存在固有的局限性，包括对ARVC缺乏特异性；未来的修订版本可能会有所改进，例如，通过能够检测右心室结构和功能细微变化的增强成像方案、纳入电解剖数据、对肾上腺素能刺激的反应以及解释基因变异的验证标准。
