Boon A R, Roberts D F
J Med Genet. 1976 Dec;13(6):420-33. doi: 10.1136/jmg.13.6.420.
Families of 100 patients with coarctation of the aorta and 50 controls for age, sex, and social status were studied to assess the influence of genetic and environmental variables in the aetiology. A tendency to familial aggregation of the condition and other congenital heart defects compatible with multifactorial inheritance was discerned. Recurrence risk for sibs is approximately 1 in 200 for coarctation of the aorta, and 1% for any form of congenital heart defect. The heritability of coarctation is estimated at 58%. The tendency for other non-cardiac defects to occur in the patients with coarctation does not appear in their sibs and is not so pronounced as in some other congenital heart conditions. Of the several environmental variables examined, there was no definitive association with any other than season of birth, which implies a possible association with maternal infection; there is also a suggestion of a paternal age effect, but these require investigation in a prospective survey.
对100例主动脉缩窄患者以及50例年龄、性别和社会地位相匹配的对照者的家庭进行了研究，以评估遗传和环境变量在病因学中的影响。发现该病以及其他与多因素遗传相符的先天性心脏缺陷存在家族聚集倾向。主动脉缩窄患者同胞的复发风险约为1/200，任何形式的先天性心脏缺陷的复发风险为1%。主动脉缩窄的遗传度估计为58%。主动脉缩窄患者出现其他非心脏缺陷的倾向在其同胞中未出现，且不如其他一些先天性心脏病那么明显。在所研究的几个环境变量中，除出生季节外，与其他变量均无明确关联，这意味着可能与母体感染有关；也有父亲年龄效应的迹象，但这些需要在前瞻性研究中进行调查。
