title: Population-based study of congenital heart defects in Down syndrome.
abstract: 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.
authors.affiliation: Department of Genetics, Emory University, Atlanta, Georgia 30322, USA. sfreeman@genetics.emory.edu
authors.forename: S B
authors.initials: SB
authors.lastname: Freeman
authors.forename: L F
authors.initials: LF
authors.lastname: Taft
authors.forename: K J
authors.initials: KJ
authors.lastname: Dooley
authors.forename: K
authors.initials: K
authors.lastname: Allran
authors.forename: S L
authors.initials: SL
authors.lastname: Sherman
authors.forename: T J
authors.initials: TJ
authors.lastname: Hassold
authors.forename: M J
authors.initials: MJ
authors.lastname: Khoury
authors.forename: D M
authors.initials: DM
authors.lastname: Saker
mesh_terms: D004314:Down Syndrome / Q000503:physiopathology*; D006330:Heart Defects, Congenital; D006801:Humans; D007231:Infant, Newborn