Nava A, Thiene G, Canciani B, Scognamiglio R, Daliento L, Buja G, Martini B, Stritoni P, Fasoli G
Department of Cardiology, University of Padua, Medical School, Italy.
J Am Coll Cardiol. 1988 Nov;12(5):1222-8. doi: 10.1016/0735-1097(88)92603-4.
Right ventricular pathologic involvement, with autopsy evidence of fibrous and fatty infiltration of the right ventricle, was investigated in members of families in which cases of juvenile sudden death had occurred. Seventy-two subjects from nine families were studied. Sixteen died at a young age and 56 are living. Postmortem investigation in 11 cases (mean age at death 24 years) revealed massive replacement of the right ventricular free wall by fat or fibrous tissue. In the 56 living patients clinical examination included an electrocardiogram (ECG) at rest, ambulatory ECG recording, posteroanterior and lateral chest roentgenograms, M-mode and two-dimensional echocardiograms and exercise stress tests. In 14 patients, hemodynamic, angiographic and electrophysiologic studies were also carried out; right ventricular endomyocardial biopsy was performed in four. Structural and dynamic right ventricular impairment was detected in 30 living patients (mean age 25 years), and concomitant mild left ventricular abnormalities were present in 4. In eight of the nine families studied at least two members were affected. Ventricular arrhythmias (Lown grade greater than or equal to 4a) were recorded in more than half of the cases. The data reveal that right ventricular dysplasia shows a familial clustering and causes electrical instability that may place affected subjects at risk of sudden death. The mean age of these subjects suggests that the disease is manifested at a young age with a polymorphic clinical and arrhythmic profile. Finally, because this disease is a primary disorder of the ventricular myocardium, it should be included among the cardiomyopathies.
对发生青少年猝死病例的家族成员进行了研究，以调查右心室的病理改变，尸检证据显示右心室存在纤维性和脂肪浸润。研究了来自9个家族的72名受试者。其中16人英年早逝，56人健在。对11例（平均死亡年龄24岁）进行的尸检发现，右心室游离壁被脂肪或纤维组织大量替代。在56名健在患者中，临床检查包括静息心电图（ECG）、动态心电图记录、后前位和侧位胸部X线片、M型和二维超声心动图以及运动负荷试验。对14例患者还进行了血流动力学、血管造影和电生理研究；4例进行了右心室心内膜活检。在30名健在患者（平均年龄25岁）中检测到右心室结构和功能受损，4例伴有轻度左心室异常。在研究的9个家族中，至少有两个成员受影响。超过半数的病例记录到室性心律失常（Lown分级大于或等于4a）。数据显示，右心室发育异常呈现家族聚集性，并导致电不稳定，可能使受影响的个体面临猝死风险。这些受试者的平均年龄表明，该疾病在年轻时表现出来，具有多形性临床和心律失常特征。最后，由于这种疾病是心室心肌的原发性疾病，应将其纳入心肌病范畴。
