Sanchez-Cascos A
Eur J Cardiol. 1978 Apr-May;7(2-3):197-210.
We have studied 1148 'isolated" cases of congenital heart disease, taken from a general series of 1255 cases. The recurrence risk ranged from 0.9% for relatives of male cases of VSD and for female cases of aortic stenosis to 10.5% for relatives of female cases of atrioventricularis communis; mean value 2.5%. Heritability ranged from 50% to 95%, mean 65%. Full concordance was more frequent in 1st-degree relatives of Fallot's tetralogy patients, while discordance was common in more distant relatives. We propose a hypothesis of several overlapping polygenic systems for the causation of CHD.
我们研究了从1255例先天性心脏病总病例中选取的1148例“孤立性”病例。复发风险范围从室间隔缺损男性病例和主动脉狭窄女性病例的亲属的0.9%到房室共同通道女性病例的亲属的10.5%；平均值为2.5%。遗传度范围从50%到95%，平均为65%。法洛四联症患者的一级亲属中完全一致的情况更常见，而在更远的亲属中不一致的情况很普遍。我们提出了一个关于先天性心脏病病因的几个重叠多基因系统的假说。
