Nava A, Scognamiglio R, Thiene G, Canciani B, Daliento L, Buja G, Stritoni P, Fasoli G, Dalla Volta S
Am J Cardiol. 1987 Jun 1;59(15):1405-9. doi: 10.1016/0002-9149(87)90929-5.
Thirty-two members of a family were studied. Three of them died in their youth and had evidence of arrhythmogenic right ventricular (RV) dysplasia. The other 29 members underwent clinical examination, electrocardiography, chest x-ray and M-mode and 2-dimensional echocardiography. Fourteen patients found to have structural abnormalities of the right ventricle underwent 24-hour ambulatory electrocardiographic recording and symptom-limited bicycle stress testing. Hemodynamic and angiographic studies were performed in 6 of these patients. In this family the arrhythmogenic RV dysplasia showed a wide variation of abnormalities, ranging from mild, local alterations to generalized involvement of the right ventricle. The patients were separated into 3 groups on the basis of both the clinical profile and noninvasive/invasive studies: 3 subjects who died suddenly; 3 subjects who had severe ventricular arrhythmias; and 8 subjects in whom RV impairment was not associated with any significant arrhythmias. There was no close relation between the severity of the RV abnormality and presence of ventricular arrhythmias. The variability of the RV abnormality and the high prevalence of this condition in this family is consistent with a genetic pattern of autosomal dominance with incomplete penetrance.
对一个家族的32名成员进行了研究。其中3人在年轻时死亡，并有致心律失常性右心室（RV）发育异常的证据。其他29名成员接受了临床检查、心电图、胸部X光以及M型和二维超声心动图检查。14名被发现右心室结构异常的患者进行了24小时动态心电图记录和症状限制性自行车运动负荷试验。其中6名患者进行了血流动力学和血管造影研究。在这个家族中，致心律失常性RV发育异常表现出广泛的异常变化，从轻度的局部改变到右心室的广泛受累。根据临床特征以及非侵入性/侵入性研究，将患者分为3组：3名猝死患者；3名有严重室性心律失常的患者；8名右心室损害与任何明显心律失常无关的患者。右心室异常的严重程度与室性心律失常的存在之间没有密切关系。右心室异常的变异性以及该疾病在这个家族中的高患病率与常染色体显性遗传且不完全外显的遗传模式一致。
