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The aetiology of right ventricular dysplasia/cardiomyopathy is presently unknown. A genetic background has been suggested, but myocarditis may play a part in its pathogenesis. Two familial cases of right ventricular dysplasia, one of whom had also a diagnosis of myocarditis, are reported. Both patients presented with ventricular arrhythmias. The father subsequently had a "flu-like" syndrome, heart failure, and biventricular dysfunction; "active" myocarditis was found at endomyocardial biopsy. Then the patient died suddenly. The daughter developed progressive biventricular dysfunction; then she was resuscitated from a cardiac arrest, and subsequently died suddenly. In both patients necropsy showed severe right ventricular atrophy and fibro-adipose substitution, associated with biventricular fibrosis. Inflammatory infiltration was also present in the first patient. This study shows the association of right ventricular dysplasia and myocarditis in the same family. These cases may represent a link between inherited and acquired ("inflammatory") forms of the disease.

译文

右心室发育不良/心肌病的病因目前未知。已经提出了遗传背景,但是心肌炎可能在其发病机理中起作用。据报告,有2例家族性右室发育异常,其中1例也被诊断出心肌炎。两名患者均出现室性心律失常。父亲随后患有“流感样”综合征,心力衰竭和双心室功能障碍。在心肌内膜活检中发现“活动性”心肌炎。然后病人突然死亡。女儿发展为进行性双室功能不全;然后她因心脏骤停而复活,随后突然死亡。两名患者的尸检均显示严重的右心室萎缩和纤维脂肪替代,并伴有双心室纤维化。第一名患者中也存在炎症浸润。这项研究显示了同一家庭中右心室发育不良与心肌炎的关系。这些病例可能代表了疾病的遗传形式和获得性(“炎症”)形式之间的联系。

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