Allwood Richard P
Cardiology Department, Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia.
J Clin Ultrasound. 2025 Jan;53(1):213-217. doi: 10.1002/jcu.23848. Epub 2024 Sep 20.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by progressive fibrofatty tissue replacement of the myocardium. Asymptomatic individuals can often present for the first time with acute cardiac symptoms, such as syncope and ventricular arrhythmias or sudden cardiac death (SCD), which can occur in young and athletic populations. In the field of inherited cardiomyopathies, ARVC is one of the most challenging to diagnose due to its variable expressivity, incomplete penetrance, and lack of specific, unique diagnostic criteria. Without additional clinical findings or context, current imaging modalities are unable to definitively distinguish ARVC from other disease entities. Right ventricular (RV) structural changes can lead to prominent ARVC features. An important component of the 2010 revised task force criteria (TFC) is the assessment of RV wall motion contraction by echocardiography; however, this can be difficult to assess. This case report explores the diagnostic criteria used for ARVC and the role of RV wall motion contraction in the diagnosis.
致心律失常性右室心肌病（ARVC）是一种遗传性疾病，其特征是心肌逐渐被纤维脂肪组织替代。无症状个体首次出现时往往表现为急性心脏症状，如晕厥、室性心律失常或心脏性猝死（SCD），这些情况可能发生在年轻且运动的人群中。在遗传性心肌病领域，ARVC因其表达多变、外显不全以及缺乏特异性的独特诊断标准，成为最难诊断的疾病之一。若无其他临床发现或背景信息，当前的成像方式无法明确区分ARVC与其他疾病实体。右心室（RV）结构改变可导致显著的ARVC特征。2010年修订的工作组标准（TFC）的一个重要组成部分是通过超声心动图评估RV壁运动收缩情况；然而，这可能难以评估。本病例报告探讨了用于ARVC的诊断标准以及RV壁运动收缩在诊断中的作用。
