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Congenital Cardiovascular Defects in Infants With Down Syndrome

Editor's note: In response to a reader's question about cardiac evaluation of patients with Down syndrome, we asked Dr Clark for a review and recommendation for workup by the general pediatrician. RJH

Infants with Down syndrome are at 50% risk for congenital cardiovascular malformations¹ compared with a 0.3% (3 of 1000) risk for infants with normal chromosomes.² These data confirm the original estimates of Rowe and Uchida³; other estimates have ranged from 20% to 70%.

The types of heart defects found in persons with Down syndrome are severe: complete atrioventricular canal, ventricular septal defect, partial atrioventricular canal, atrial septal defect, tetralogy of Fallot, and patent ductus arteriosus.⁴