致心律失常性右室心肌病七个家系调查  

A study on arrhythmogenic right ventricular cardiomyopathy in seven Chinese families

作　　者：杨春梅[1] 黄峻[1] 单其俊[1] 许迪[1] 涂静[1] 陈莉[1] 雍永宏[1] 邹建刚[1] 陈明龙[1] 王连生[1] 李春坚[1] 杨志健[1] 马根山[1] 朱铁兵[1] 陆凤翔[1] 曹克将[1] 

机构地区：[1]南京医科大学第一附属医院心血管科,210029

出　　处：《中华心血管病杂志》2001年第8期478-481,共4页Chinese Journal of Cardiology

基　　金：江苏省教委自然科学基金重点项目资助 ( 99KJB 32 0 0 8)

摘　　要：目的　调查致心律失常性右室心肌病 (ARVC)家系 ,提供国人ARVC的遗传学资料及家系成员的患病情况。方法　调查就诊 16例ARVC患者的家族史 ,包括询问家系成员病史 ,做心脏检查。根据欧洲心脏病协会的诊断标准作出诊断。结果　 16例患者中 7例有家族史 (44 % ) ,该 7个家系中查出ARVC患者 31例 ,平均年龄 (38.9± 15 .0 )岁。所有家系均表现为显性遗传。除先证者外 ,家系患者有症状者占 19%。每个家系各有发病特点。右胸导联QRS波后部切迹在家系患者中多见。家系患者心室晚电位阳性者占 74%。超声心动图显示 3个家系的所有 2 2例患者都有右室肌小梁增粗。右室的变化多集中于发育不全三角。病变部位室壁变薄伴有室壁瘤样收缩期膨出及运动障碍相当多见。病变严重者 ,右房、右室普遍扩大。结论　国人ARVC多为显性遗传 ,有遗传异质性 ,临床表现复杂 。Objective To explore the genetic characteristics of familial arrhythmogenic right ventricular cardiomyopathy(ARVC) in Chinese. Methods The data sixteen patients with ARVC were collected, including the information of family history and essential cardiac examinations. Diagnosis of ARVC was established by the Criteria of European Society of Cardiology. Results Seven of those patients presented obviously predisposition of familial inheritance. Among the seven families, 31 patients with ARVC were diagnosed including the probands, the average age of whom was (38.9±15.0) years. All the families displayed the genetic mode at autosomal dominance. Except the probands, only 19% of the patients in the families had clinic symptoms. Every family had its own clinic figures and the characteristics of electrocardiography and echocardiography. Terminal notch of QRS wave in right thorax lead was often seen in familial cases. 74% patients in the families characterized with positive signal averaging electrocardiography(SAECG). All the 22 patients in 3 families manifested prominent trabeculations through 2 Dimensional echocardiography(2 DE). The major alteration of right ventricular (RV) was located within the triangle of dysplasia. It was rather popular that thin wall with akinetic areas microaneurysm formation in lesion sites. Right atrium and RV were enlarged in serious patients with this disease. Conclusion ARVC, mainly onsets in the young or adults, has obviously autosomal dominant genetic predisposition in Chinese, which presents genetic heterogenicity and complicated clinical manifestation.

关 键 词：心律失常性 右心室发育不良 遗传 性疾病 家系调查 

分 类 号：R541.7[医药卫生—心血管疾病] R541.1[医药卫生—内科学]