室间隔缺损是婴儿和儿童中最常见的先天性心脏缺陷,每 1000 名活产儿中最多有 3.5 名婴儿患有孤立性室间隔缺损。[2]Brickner ME, Hillis DL, Lange RA. Congenital heart disease in adults: first of two parts. N Engl J Med. 2000;342:256-263.http://www.ncbi.nlm.nih.gov/pubmed/10648769?tool=bestpractice.com其中大多数会在童年自然闭合。[3]Perloff JK. Survival patterns without cardiac surgery or interventional catheterization: a narrowing base. In: Perloff JK, Childs JS, eds. Congenital heart disease in adults. 2nd ed. Philadelphia, PA: WB Saunders; 1998:15-53.室间隔缺损也可能伴随其他先天性缺陷。
2 型(膜周部)缺损是最常见的室间隔缺损,占室间隔缺损的 70%。4 型(肌部)缺损占 20%,而 1 型(嵴上或双邻近大动脉)缺损和 3 型(流入道型)缺损各占 5%。[4]Graham TP Jr, Gutgesell HP. Ventricular septal defects. In: Emmanouilides GC, Riemenschneider TA, Allen HD, Gutgesell HP, eds. Moss and Adams heart disease in infants, children, and adolescents. Baltimore, MD: Williams & Wilkins, 1995:724-746.
唐氏综合征通常与房室间隔缺损有关,三分之一至一半的患者患有房室间隔缺损。受累部位可能是房间隔、室间隔或二者同时受累。[5]Craig B. Atrioventricular septal defect: from fetus to adult. heart. 2006;92:1879-1885.http://www.ncbi.nlm.nih.gov/pubmed/17105897?tool=bestpractice.com总体而言,房室间隔缺损的发生率为每 1000 名活产儿中约有 0.25 至 0.43 例。[6]Tubman RJ, Shields MD, Craig BG, et al. Congenital heart disease in Down's syndrome: two year prospective early screening study. BMJ. 1991;302:1425-1427.http://www.ncbi.nlm.nih.gov/pubmed/1829969?tool=bestpractice.com[7]Reller MD, Strickland MJ, Riehle-Colarusso, et al. Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005. J Paediatr. 2008;153:807-813.http://www.ncbi.nlm.nih.gov/pubmed/18657826?tool=bestpractice.com
由心肌梗死或创伤造成的获得性室间隔缺损比较少见。