22q11微缺失综合征与先天性心脏病的关系  

Relationship between 22qll microdeletion syndrome and congenital heart disease

作　　者：秦玉峰[1] 解春红[3] 杨建滨[2] 吴鼎文[2] 邵洁[1] 赵正言[1] 

机构地区：[1]浙江大学医学院附属儿童医院儿童保健科,杭州310003 [2]浙江大学医学院附属儿童医院遗传实验室,杭州310003 [3]浙江大学医学院附属儿童医院心内科,杭州310003

出　　处：《中华心血管病杂志》2011年第7期631-635,共5页Chinese Journal of Cardiology

基　　金：浙江省教育厅科研项目（20070112）

摘　　要：目的 探讨22q11微缺失综合征与先天性心脏病的关系.方法 应用荧光原位杂交（FISH） 技术,对207例不同表型的临床疑似患者的外周血标本进行22q11微缺失的检测.分析22q11微缺失综合征患者的超声心动图特征,并对部分复杂先天性心脏病患者行心导管检查.结果 共确诊22q11微缺失综合征患者39例.22q11微缺失综合征的患病率在非综合征性先天性心脏病患者中为1.6%,在综合征性先天性心脏病患者中为53.0%,在无先天性心脏病的疑似患者中则为3.8%.先天性心脏病在22q11微缺失综合征和非22q11微缺失综合征患者中的比例分别为94.9%和54.2%（P＜0.01）,综合征性先天性心脏病在22q11微缺失综合征和非22q11微缺失综合征患者中的比例分别为89.7%和18.5%（P＜0.01）.在22q11微缺失综合征患者中,先天性心脏病以法洛四联征最多见,心外异常则以面容异常、学习困难和生长发育落后多见.结论Objective To investigate the relationship between 22q11 microdeletion syndrome and congenital heart disease. Methods Clinical screening assessment and genetic testing using standard fluorescence in-situ hybridization （FISH） were applied in 207 subjects suspected for 22q11 microdeletion syndrome. Patients with 22q11 microdeletion syndrome were examined by echocardiography, patients with complicated congenital heart disease were examined further by cardiac catheterization. Results 22q11 microdeletion syndrome was detected in 39 subjects. The incidence of 22q11 microdeletion syndrome was 1.6% in suspects with simple congenital heart disease without extracardiac manifestations, 53.0% in suspects with congenital heart disease combined with at least two extracardiac manifestations, 3.8% in suspects without congenital heart disease.The incidence of congenital heart disease in 22q11 microdeletion syndrome patient and non 22q11 microdeletion syndrome patient was 94.9% and 54.2%（P〈0.01）. The incidence of congenital heart disease combined with at least two extracardiac manifestations in 22q11 microdeletion syndrome patient and non 22q11 microdeletion syndrome patient was 89.7% and 18.5%（P〈0.01）.In 22q11 microdeletion syndrome patients, Tetralogy of Fallot was the most common type of congenital heart disease. Dysmorphic faces, learning difficulties and retarded physical development were the most common extracardiac manifestations of the congenital heart disease patients. Conclusion 22q11 microdeletion syndrome is related to congenital heart disease

关 键 词：染色体缺失 心脏缺损 先天性 疾病特征 

分 类 号：R725.4[医药卫生—儿科]