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 language | English (US) |
|---|---|
| Pages (from-to) | 458-461 |
| Number of pages | 4 |
| Journal | Texas Heart Institute Journal |
| Volume | 42 |
| Issue number | 5 |
| DOIs | |
| State | Published - Oct 2015 |
| Externally published | Yes |
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