Down syndrome: With complete atrioventricular septal defect, hypertrophic cardiomyopathy, and pulmonary vein stenosis

Guruprasad Mahadevaiah, Manoj Gupta, Ravi Ashwath

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

The prevalence of congenital heart disease in infants with Down syndrome is 40%, compared with 0.3% in children who have normal chromosomes. Atrioventricular and ventricular septal defects are often associated with chromosomal aberrations, such as in trisomy 21, whereas hypertrophic cardiomyopathy is chiefly thought to be secondary to specific gene mutations. We found only one reported case of congenital hypertrophic cardiomyopathy and atrioventricular septal defect in an infant with Down syndrome. Here, we report atrioventricular septal defect, hypertrophic cardiomyopathy, and pulmonary vein stenosis in a neonate with Down syndrome—an apparently unique combination. In addition, we discuss the relevant medical literature.

Original languageEnglish (US)
Pages (from-to)458-461
Number of pages4
JournalTexas Heart Institute Journal
Volume42
Issue number5
DOIs
Publication statusPublished - Oct 2015
Externally publishedYes

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Keywords

  • Abnormalities, multiple/genetics
  • Cardiomyopathy, hypertrophic/complications/congenital
  • Down syndrome/complications
  • Fatal outcome
  • Heart defects, congenital/diagnosis/epidemiology
  • Heart septal defects, ventricular/embryology/physiopathology
  • Hypertension, pulmonary/complications
  • Infant, newborn
  • Pulmonary veins/physiopathology

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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