30%以上的先天性心脏病患者同时存在PS及其他病变,而孤立性PS占所有先天性心脏病患者的8%~14%。[2]Rosamond W, Flegal K, Friday G, et al. Heart disease and stroke statistics - 2007 update: a report from the American Heart Association Statistics Committee and Stroke Statistics Subcommittee. Circulation. 2007 Feb 6;115(5):e69-171.http://circ.ahajournals.org/cgi/content/full/115/5/e69http://www.ncbi.nlm.nih.gov/pubmed/17194875?tool=bestpractice.com 对于努南(Noonan)综合征的患者,孤立性PS大多由肺动脉瓣发育不良导致,发生率达27%。[3]Burch M, Sharland M, Shinebourne E, et al. Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients. J Am Coll Cardiol. 1993 Oct;22(4):1189-92.http://www.sciencedirect.com/science/article/pii/0735109793904365?via%3Dihubhttp://www.ncbi.nlm.nih.gov/pubmed/8409059?tool=bestpractice.com 在过去的 20 年间,PS 的诊断率明显上升,这可能归因于多普勒超声心动图的可及性增加。[4]Botto LD, Correa A, Erickson JD. Racial and temporal variations in the prevalence of heart defects. Pediatrics. 2001;107:E32.http://pediatrics.aappublications.org/content/107/3/e32.fullhttp://www.ncbi.nlm.nih.gov/pubmed/11230613?tool=bestpractice.com 与白种人相比,黑人的周围型PS发生率更高(每10000名存活新生儿中的发生率为5.35比2.45),瓣膜型PS的发生率也更高(每10000名存活新生儿中的发生率为4.48比3.46),差异有统计学意义。