Fraser F C, Hunter A D
Am J Cardiol. 1975 Nov;36(6):793-6. doi: 10.1016/0002-9149(75)90461-0.
Pairs of siblings with congenital heart malformations of different types were analyzed for evidence of nonrandom association of defects within families that might suggest a genetic predisposition common to two or more kinds of malformations. An excess of pairs was noted for tetralogy of Fallot and pulmonary stenosis, tetralogy of Fallot and transposition of the great vessels, and tetralogy of Fallot and ventricular septal defect, thus suggesting that there may be a developmental relation between these lesions. This finding is supported by a recent study in the Keeshond dog demonstrating a genetic predisposition common to tetralogy of Fallot, pulmonary stenosis and ventricular septal defect. Thus the method does seem capable of revealing etiologic relations, probably genetic, among different types of cardiac lesions. Data on risks of recurrence for siblings of children with these defects will now have to be refined to take into account the possible recurrence of related lesions.
对患有不同类型先天性心脏畸形的同胞对进行分析，以寻找家庭内缺陷非随机关联的证据，这可能表明两种或更多种畸形存在共同的遗传易感性。法洛四联症与肺动脉狭窄、法洛四联症与大动脉转位、法洛四联症与室间隔缺损的同胞对数量过多，因此表明这些病变之间可能存在发育关系。最近一项对荷兰卷毛犬的研究支持了这一发现，该研究表明法洛四联症、肺动脉狭窄和室间隔缺损存在共同的遗传易感性。因此，该方法似乎确实能够揭示不同类型心脏病变之间可能为遗传性的病因关系。现在必须完善这些缺陷患儿同胞复发风险的数据，以考虑相关病变可能的复发情况。
