家族性扩张型心肌病调查及其遗传特点分析

The frequency and genetic characteristics of familial dilated cardiomypathy

按ＷＨＯ／ＩＳＦＣ诊断标准对１９９０年１月～１９９３年６月诊治的６８例扩张型心肌病（ＤＣＭ）患者家庭成员进行了调查，包括三代内直系血亲２６１人。６８例ＤＣＭ患者中共发现６个ＤＣＭ家系，家族性ＤＣＭ的发生率为８．８％；在上述家系的４６名家族成员中共发现１８例ＤＣＭ患者，占３９．１％，其中父母５例（２７．８％），兄弟姐妹１０例（５５．６％），子女３例（１６．７％）。在总数２４例家族性ＤＣＭ患者中，男性１１例，女性１３例，男女比例为０．８５：１，有二个家系患者合并家族性心脏传导阻滞。

Abstract Sixty eight patients with dilated cardiomypathy (DCM) was diagnosed according to the criteria proposed by WHO/ISFC between January, 1990 and June, 1993. 261 first degree relatives of these 68 families were evaluated. 6 families were shown to have DCM. Thus, the frequency of familial DCM were 8. 8%. Among 46 members in the 6 families, 18 had DCM (39.1%), there were 5 patients (5/18,27. 8%), 10 siblings (10/18, 55. 6%) and 3 children (3/18, 16. 7%). In all 24 familial patients, 11 were male, 13 female, with the proportion of 0. 85 to 1.Two families were found associated with familial cardiac conduction defect. This is the first report about the frequency of familial DCM in China.