Prevalence of unsuspected abnormal echocardiograms in adolescents with down syndrome

Sarah B. Clauss, Samuel S. Gidding, Claire I. Cochrane, Rachel Walega, Babette S. Zemel, Mary E. Pipan, Sheela N. Magge, Andrea Kelly, Meryl S. Cohen

Research output: Contribution to journalArticlepeer-review


The purpose of this article is to describe the prevalence of cardiac disease previously undiagnosed in healthy asymptomatic children and adolescents with Down syndrome (DS). Subjects with DS ages 10–20 years were recruited from two sites, the Children's Hospital of Philadelphia (Philadelphia, PA) and Children's National Health System (Washington, DC) for a cross-sectional study of body composition and cardiometabolic risk. Echocardiographic and clinical data were collected from patients enrolled in the parent study of cardiometabolic risk. Nine (6%) new cardiac diagnoses were identified out of 149 eligible patients. All new findings resulted in outpatient referrals to pediatric cardiology. Current guidelines recommend screening all newborns with DS for congenital heart disease. Older patients with DS may benefit from rescreening.

Original languageEnglish (US)
Pages (from-to)2420-2424
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number12
StatePublished - Dec 1 2019
Externally publishedYes


  • Down syndrome
  • congenital heart disease
  • echocardiogram

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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