Loire R, Tabib A
Ann Pathol. 1998 Jul;18(3):165-71.
Assessing 100 cases of arrhythmogenic right ventricular dysplasia causing unexpected sudden death, we stress two aspects of the disease, specially concerning pathologists: diagnosis value and limitations of endomyocardial biopsy and high frequency of the disease among unexpected sudden death in young adults. When the disease is identified genetic screening should be performed among patient's family members. The anterior right ventricular wall is very thin (partly or completely) and microscopic examination shows absence of muscle cells, replaced by normal fatty tissue. Associated lesions are often present: slight abnormalities of left ventricle, mucoid degeneration of auriculo-ventricular valves and recently described lesions of His conductive tissue. Apoptotic anomalies are now incriminated for agenesy or disappearing right ventricular muscle.
对100例致心律失常性右心室发育不良导致意外猝死的病例进行评估时，我们强调了该疾病的两个方面，特别是对于病理学家而言：心内膜活检的诊断价值和局限性，以及该疾病在年轻成年人意外猝死中所占的高比例。当确诊该疾病时，应在患者家庭成员中进行基因筛查。右心室前壁非常薄（部分或完全），显微镜检查显示无肌肉细胞，代之以正常脂肪组织。常伴有其他病变：左心室轻度异常、房室瓣黏液样变性以及最近描述的希氏传导组织病变。现在认为凋亡异常是右心室心肌发育不全或消失的原因。
