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.

Cardiovascular abnormalities in Down's syndrome: spectrum, management and survival over 22 years

“…This is in keeping with reports from other countries such as the United States,2 Guatemala9 and Oman 8. Early diagnosis is preferable and therefore screening echocardiography is routinely performed in many centres.…”

“…It remains the commonest chromosomal abnormality in live born infants1 and its association with cardiovascular anomalies is well established 2 3. Despite increases in antenatal screening and termination of pregnancy over the last 20 years, there has been no change in the live born prevalence of Down's syndrome in our region,4 5 The increase in antenatal diagnosis has likely been offset by the changing maternal age profile in the population, which has shown a threefold increase in the percentage of mothers over 35 years of age at the time of delivery 4…”

Cerebrovascular contributions to aging and Alzheimer's disease in Down syndrome

“…[30,87]) in children with DS with atrioventricular septal and ventricular septal defects appearing as the most common congenital heart defects. In a review of the heart and vascular system in DS, Vis and colleagues [100] described increased frequency of congenital heart defects along with factors associated with heart disease such as hypothyroidism, lipid levels, reduced homocysteine levels, decreased atherosclerosis and their association with chromosome 21 overexpression.…”

Is body mass index a useful measure of excess body fatness in adolescents and young adults with Down syndrome?

“…Recent data suggest that the prevalence of DS is higher among males than females (Shin et al 2009). Children and adolescents born with DS may have congenital heart abnormalities (Freeman et al 1998) or other medical problems and are often overweight (Chumlea and Cronk 1981, Cronk et al 1985). Growth patterns of children with DS are different from patterns in typically developing children; the pubertal growth spurt has been reported to occur earlier (Arnell et al 1996) and is decreased in children with DS (Myrelid et al 2002).…”