Guruprasad Mahadevaiah, Manoj Gupta, Ravi Ashwath
Rainbow Babies and Children’s Hospital.
United States
Texas Heart Institute Journal
Tex Heart Inst J 2015; 42: 458-461
DOI: 10.14503/THIJ-14-4256
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.
Category
Stenosis or Obstruction of Normal Pulmonary Venous Connections
Genetic Factors Influencing the Onset, Severity or Outcome of Disease
Patient Factors Influencing the Onset, Severity or Outcome of Disease
Length of Life Associated with Pulmonary Venous Obstruction
Year of Publication: 2015
Age Focus: Pediatric
Article Type: Case Reports or Retrospective Observations in Small Groups of Patients (≤10 patients)
Article Access: Free PDF File or Full Text Article Available Through PubMed or DOI: Yes