Wulfsberg E A, Zintz E J, Moore J W
Medical Genetics/Dysmorphology, National Naval Medical Center, Uniformed Services University of the Health Sciences, Bethesda, Maryland.
Clin Genet. 1991 Jul;40(1):12-6. doi: 10.1111/j.1399-0004.1991.tb03063.x.
Congenital heart defects (CHD) are a group of structural abnormalities that in humans have a combined incidence of approximately 1%. It is estimated that 4-5% of CHD are associated with chromosome abnormalities, 1-2% are associated with single gene syndromes, 1-2% are due to known teratogens, with the rest presumably determined multifactorially. We report on a brother and sister with tetralogy of Fallot with pulmonary atresia, and review the inheritance of familial conotruncal anomalies. We feel the small number of family clusters and the rare instances of consanguinity in non-syndromal conotruncal defects are consistent with multifactorial determination. While it is prudent in counseling families with 2 or more individuals with conotruncal CHD to raise the possibility of single gene inheritance, we believe that current empiric recurrence risk estimates most accurately reflect their risks.
先天性心脏病（CHD）是一组结构异常，在人类中的综合发病率约为1%。据估计，4-5%的CHD与染色体异常有关，1-2%与单基因综合征有关，1-2%是由已知的致畸物引起的，其余的可能由多因素决定。我们报告了一对患有法洛四联症合并肺动脉闭锁的兄妹，并回顾了家族性圆锥动脉干异常的遗传情况。我们认为，非综合征性圆锥动脉干缺陷中家族聚集病例数量少以及近亲结婚的罕见情况与多因素决定是一致的。虽然在为有两个或更多患有圆锥动脉干CHD个体的家庭提供咨询时，谨慎地提出单基因遗传的可能性是明智的，但我们认为目前的经验性复发风险估计最准确地反映了他们的风险。
