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 journalArticle


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)
JournalAmerican Journal of Medical Genetics, Part A
StateAccepted/In press - Jan 1 2019
Externally publishedYes



  • congenital heart disease
  • Down syndrome
  • echocardiogram

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Clauss, S. B., Gidding, S. S., Cochrane, C. I., Walega, R., Zemel, B. S., Pipan, M. E., Magge, S. N., Kelly, A., & Cohen, M. S. (Accepted/In press). Prevalence of unsuspected abnormal echocardiograms in adolescents with down syndrome. American Journal of Medical Genetics, Part A.