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Prevalence of unsuspected abnormal echocardiograms in adolescents with down syndrome
Author(s) -
Clauss Sarah B.,
Gidding Samuel S.,
Cochrane Claire I.,
Walega Rachel,
Zemel Babette S.,
Pipan Mary E.,
Magge Sheela N.,
Kelly Andrea,
Cohen Meryl S.
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61367
Subject(s) - medicine , asymptomatic , pediatrics , cross sectional study , outpatient clinic , heart disease , disease , down syndrome , pathology , psychiatry
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.

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