Schiønning J D, Frederiksen P, Kristensen I B
Institute of Forensic Medicine, University of Aarhus, Denmark.
Am J Forensic Med Pathol. 1997 Dec;18(4):345-8. doi: 10.1097/00000433-199712000-00006.
Arrhythmogenic right ventricular dysplasia (ARVD) is a poorly understood and often underdiagnosed disorder of the right ventricle, characterized by replacement of myocardium by fibroadipose tissue, arrhythmic manifestations, and sudden death. The disease occurs in families and is inherited as an autosomal dominant trait. This report describes five cases of ARVD identified by autopsy. In three of the cases, sudden death occurred in the young (16-28 years old) during or shortly after exercise. In another case, a 46-year-old man with no relevant medical history was found dead in his bathroom. In the last case, a 57-year-old woman died from pulmonary thromboembolism. In none of the subjects had the disease been diagnosed or suspected before death. Only one (a 21-year-old man) had previous typical symptoms of the disease. Autopsy examination showed right ventricle dilation and, in four cases, cardiomegaly. The right ventricular myocardium of all hearts was almost replaced by adipose tissue and to a variable degree by fibrous tissue, while the left ventricle myocardium demonstrated no, or only scattered, fibro-fatty infiltration. Postmortem diagnosis of ARVD can be important in identifying possible affected family members in order to initiate treatment.
致心律失常性右室心肌病（ARVD）是一种人们了解甚少且常常被漏诊的右心室疾病，其特征为心肌被纤维脂肪组织替代、心律失常表现以及猝死。该病具有家族聚集性，呈常染色体显性遗传。本报告描述了5例经尸检确诊的ARVD病例。其中3例为年轻人（16 - 28岁）在运动期间或运动后不久猝死。另一例中，一名无相关病史的46岁男性被发现死于浴室。最后一例中，一名57岁女性死于肺血栓栓塞。所有受试者在死前均未被诊断或怀疑患有该病。只有一人（一名21岁男性）之前有该病的典型症状。尸检显示右心室扩张，4例伴有心脏增大。所有心脏的右心室心肌几乎均被脂肪组织替代，不同程度地被纤维组织替代，而左心室心肌未发现或仅有散在的纤维脂肪浸润。ARVD的尸检诊断对于识别可能受影响的家庭成员以便启动治疗可能具有重要意义。
