Publication Date
10-1-2015
Journal
The Texas Heart Journal
DOI
10.14503/THIJ-14-4256
PMID
26504441
Publication Date(s)
October 2015
Language
English
PMCID
PMC4591887
PubMedCentral® Posted Date
10-1-2015
PubMedCentral® Full Text Version
Post-Print
Published Open-Access
yes
Keywords
Autopsy, Cardiomyopathy, Hypertrophic, Down Syndrome, Echocardiography, Fatal Outcome, Female, Genetic Predisposition to Disease, Heart Failure, Heart Septal Defects, Humans, Infant, Newborn, Magnetic Resonance Imaging, Male, Phenotype, Phlebography, Pregnancy, Pregnancy, Twin, Pulmonary Veno-Occlusive Disease
Copyright
This work is licensed under a Creative Commons Attribution-NonCommercial-No Derivative Works 4.0 International License.
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.