Cardiology Department, G. Gennimatas Hospital, Athens, Greece.
Hellenic J Cardiol. 2011 Sep-Oct;52(5):452-61.
We describe the case of a 51-year-old woman with a 10-year history of dyspnoea and fatigue on slight effort, presyncopal episodes, and ventricular extrasystolic arrhythmia. Tests were negative for coronary artery disease, valvular disease, or left ventricular dysfunction. The patient fulfilled the clinical criteria for arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) and the diagnosis was confirmed histologically with an endomyocardial biopsy. During 5-year follow up she also exhibited significant structural progression to the left ventricle. This is a rare case of ARVC/D manifested in middle age, with a negative family history, negative test for desmosome mutations, and negative myocardial immunohistochemical analysis, evidence that tends to suggest an acquired form of the disease. We also present a brief review of the clinical, electrocardiographic, structural, pathological/anatomical and genetic characteristics of the disease, the diagnostic criteria, prognosis, management, and sudden death prevention, as well as the way we have managed our patient until the present day.
我们描述了一例 51 岁女性的病例，该患者有 10 年的呼吸困难和轻微用力时疲劳、晕厥前发作和室性期前收缩性心律失常病史。冠状动脉疾病、瓣膜疾病或左心室功能障碍的检查均为阴性。该患者符合致心律失常性右心室心肌病/发育不良（ARVC/D）的临床标准，通过心内膜心肌活检得到组织学证实。在 5 年的随访中，她的左心室也出现了明显的结构性进展。这是一例罕见的中年起病的 ARVC/D 病例，家族史阴性，桥粒突变检测阴性，心肌免疫组织化学分析阴性，这些证据表明该病可能为获得性形式。我们还简要回顾了该病的临床、心电图、结构、病理/解剖和遗传特征、诊断标准、预后、管理和猝死预防，以及我们至今对该患者的管理方式。
