Prevalence of unsuspected abnormal echocardiograms in adolescents with down syndrome

Am J Med Genet A. 2019 Dec;179(12):2420-2424. doi: 10.1002/ajmg.a.61367. Epub 2019 Oct 6.

Abstract

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.

Keywords: Down syndrome; congenital heart disease; echocardiogram.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Child
  • Down Syndrome / complications*
  • Down Syndrome / epidemiology*
  • Echocardiography*
  • Ethics, Medical
  • Female
  • Heart Defects, Congenital / epidemiology*
  • Heart Defects, Congenital / etiology*
  • Humans
  • Male
  • Prevalence
  • Young Adult