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.
Mots-clés Pascal : Mongolisme, Chromosome G21, Trisomie, Aneuploïdie, Aberration chromosomique, Cardiopathie, Congénital, Enfant, Homme, Association morbide, Etats Unis, Amérique du Nord, Amérique, Epidémiologie, Exploration, Diagnostic, Incidence, Echocardiographie, Cathétérisme, Coeur, Maladie congénitale, Appareil circulatoire pathologie, Exploration ultrason
Mots-clés Pascal anglais : Down syndrome, Chromosome G21, Trisomy, Aneuploidy, Chromosomal aberration, Heart disease, Congenital, Child, Human, Concomitant disease, United States, North America, America, Epidemiology, Exploration, Diagnosis, Incidence, Echocardiography, Catheterization, Heart, Congenital disease, Cardiovascular disease, Sonography
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0027240
Code Inist : 002B23B. Création : 31/05/1999.