Patterns of recurrence of congenital heart disease - An analysis of 6,640 consecutive pregnancies evaluated by detailed fetal echocardiography
Patterns of recurrence of congenital heart disease - An analysis of 6,640 consecutive pregnancies evaluated by detailed fetal echocardiography
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DOI：
10.1016/s0735-1097(03)00853-2
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发表时间：
2003-09-03
影响因子：
24
通讯作者：
Simpson, JM
中科院分区：
文献类型：
--
作者：
Gill, HK;Splitt, M;Simpson, JM
目的探讨先天性心脏病(CHD)有一个或多个一级亲属受累时的复发模式。对胎儿系列进行分析，可以很好地确定受影响的病例。方法我们分析了转诊至一家三级胎儿心脏病医院的详细胎儿超声心动图资料，该医院从1990年到1999年底有一级家族冠心病病史。数据被预期输入到计算机化的数据库中。如果CHD与指标病例完全相同，则复发完全一致，如果属于相似的CHD组，则复发完全一致。兄弟姐妹、母亲或父亲的CHD转诊人数分别为5151、1119和370人。完全一致的病例占37%(范围为0%至80%)，组内完全一致的病例占44%。在有两次或两次以上复发的家庭中，确切的符合率为55%。单纯性房室间隔缺损(4/5[80%])和偏侧畸形(7/11[%])的符合率较高。对指征病例的准确诊断对于可靠的复发型式咨询至关重要。指标病例中的轻微CHD不排除复发时较严重的疾病。在父系CHD中，胎儿超声心动图似乎有明显的推荐不足。(C)2003年，由美国心脏病学会基金会提供。
OBJECTIVES We sought to investigate the pattern of recurrence of congenital heart disease (CHD) where there is one or more affected first-degree relative.BACKGROUND There are little data on patterns of recurrence of different types of CHD. Analysis of a fetal series allows a high ascertainment of affected cases.METHODS We performed an analysis of referrals for detailed fetal echocardiography to a tertiary fetal cardiology unit, where there was a first-degree family history of CHD from 1990 to the end of 1999. Data were entered prospectively on a computerized database. Recurrences were exactly concordant if CHD was identical to the index case, and concordant for the group if belonging to a similar group of CHD.RESULTS A recurrence of CHD was seen in 178 (2.7%) of 6,640 pregnancies. The referral numbers for sibling, maternal, or paternal CHD cases were 5,151, 1,119, and 370, respectively. Exact concordance was seen in 37% of cases (range 0% to 80%), and group concordance was seen in 44%. In families where there were two or more recurrences, the exact concordance rate was 55%. Exact concordance rates were particularly high for isolated atrioventricular septal defects (4 of 5 [80%]) and laterality defects (7 of 11 [64%]).CONCLUSIONS The concordance rates of different types of CHD vary widely. Accurate diagnosis of the index case is essential for reliable counseling on patterns of recurrence. Minor CHD in the index case does not exclude more severe disease in recurrences. There appears to be significant under-referral for fetal echocardiography in paternal CHD. (C) 2003 by the American College of Cardiology Foundation.