Population-based study of congenital heart defects in Down syndrome
Population-based study of congenital heart defects in Down syndrome
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DOI：
10.1002/(sici)1096-8628(19981116)80:3
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发表时间：
1998-11-16
期刊：
影响因子：
--
通讯作者：
Saker, DM
中科院分区：
文献类型：
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作者：
Freeman, SB;Taft, LF;Saker, DM
几乎所有唐氏综合征（DS）患者都存在智力低下和肌张力减退，而先天性心脏病（CHD）仅存在于一部分病例中。虽然有许多关于DS中CHD频率的报告，但很少有研究在特定地理区域内完全确定DS。亚特兰大唐氏综合症项目，一个基于人口的研究出生的婴儿三体21，提供了这样一个资源。在研究的前6.5年中，在亚特兰大地区的五个县中确定了243例21三体活产（出生患病率：9.6/10，000），其中227例（93%）病例可进行心脏诊断，其中89%的评估是通过超声心动图、心导管插入术、手术或尸检进行的。在227例DS婴儿中，44%患有CHD，包括45%房室间隔缺损（伴或不伴其他CHD），35%室间隔缺损（伴或不伴其他CHD），8%孤立性继发性房间隔缺损，7%孤立性持续性动脉导管未闭，4%孤立性法洛四联症和1%其他。这份报告是独一无二的，因为它包含了最大数量的21三体婴儿在人口为基础的研究，其中现代技术诊断心脏异常占主导地位。(C)1998 Wiley-Liss，Inc.
Mental retardation and hypotonia are found in virtually all Down syndrome (DS) individuals, whereas congenital heart defects (CHDs) are only present in a subset of cases. Although there have been numerous reports of the frequency of CHDs in DS, few of the studies have had complete ascertainment of DS in a defined geographic area. The Atlanta Down Syndrome Project, a population-based study of infants born with trisomy 21, provides such a resource. In the first 6.5 years of the study, 243 trisomy 21 livebirths were identified in the five-county Atlanta area (birth prevalence: 9.6/10,000), Cardiac diagnoses were available on 227 (93%) of the cases and 89% of these evaluations were made by echocardiography, cardiac catheterization, surgery, or autopsy. Of the 227 DS infants, 44% had CHDs including 45% atrioventricular septal defect (with or without other CHDs), 35% ventricular septal defect (with or without other CHDs), 8% isolated secundum atrial septal defect, 7% isolated persistent patent ductus arteriosus, 4% isolated tetralogy of Fallot, and 1% other. This report is unique in that it contains the largest number of trisomy 21 infants ascertained in a population-based study where modern techniques for diagnosing cardiac abnormalities predominate. (C) 1998 Wiley-Liss, Inc.