主动脉缩窄为常见的先天性心脏病,占所有先天性心脏病的 6% 至 8%。[3]McBride KL, Pignatelli R, Lewin M, et al. Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: segregation, multiplex relative risk, and heritability. Am J Med Genet A. 2005 Apr 15;134A(2):180-6.http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1361302/http://www.ncbi.nlm.nih.gov/pubmed/15690347?tool=bestpractice.com 与女性相比,此病更常见于男性。 大多数疾病为散发,尽管最近有数据显示本病与无症状性左室流出道梗阻病变呈家族性关联。[3]McBride KL, Pignatelli R, Lewin M, et al. Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: segregation, multiplex relative risk, and heritability. Am J Med Genet A. 2005 Apr 15;134A(2):180-6.http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1361302/http://www.ncbi.nlm.nih.gov/pubmed/15690347?tool=bestpractice.com[4]Wessels, MW, Berger, RM, Frohn-Mulder IM, et al. Autosomal dominant inheritance of left ventricular outflow tract obstruction. Am J Med Genet A. 2005 Apr 15;134A(2):171-9.http://www.ncbi.nlm.nih.gov/pubmed/15712195?tool=bestpractice.com
主动脉缩窄通常可见合并有其他心血管畸形,如主动脉瓣二瓣化和室间隔缺损。 越来越多的人认为该病是全身性动脉病的一部分,而不是完全单独的病变。 该病也与一些综合征有关,包括 Shone 综合征、Turner 综合征、DiGeorge 综合征和左心发育不全综合征。[3]McBride KL, Pignatelli R, Lewin M, et al. Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: segregation, multiplex relative risk, and heritability. Am J Med Genet A. 2005 Apr 15;134A(2):180-6.http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1361302/http://www.ncbi.nlm.nih.gov/pubmed/15690347?tool=bestpractice.com