Center for Cardiovascular and Pulmonary Research
Research Study: Genetic Testing of Individuals & Families with Congenital Heart Disease
Heart defects are common birth defects that contribute to a large proportion of infant deaths. Heart defects place heavy burdens on families and society as their lifelong care can be challenging and costly.
Faculty members at Nationwide Children’s Hospital are working to understand the genetic basis of congenital heart disease and are investigating how genetic and environmental factors play a role in the development of heart defects in children. They have identified familial cases of congenital heart disease and used traditional linkage studies to discover genes linked to human congenital cardiac malformations. They also explore mouse models to understand how these defects develop. Their studies could enhance diagnosis and improve treatment and outcomes for patients congenital heart defects.
GATA4 Mutations Linked to Heart Function Deficits
This study suggests that a particular mutation in the GATA4 gene leads to defects in heart cell proliferation during heart development, which may contribute to congenital heart defects in humans.
Access an abstract of this study: Congenital heart disease-causing gata4 mutation displays functional deficits in vivo. PLoS Genet. 2012 May;8(5):e1002690.
Genetics Study: Copy Number Variations in Children with Hypoplastic Left Heart Syndrome
The factors that cause hypoplastic left heart syndrome are unknown, but evidence suggests that genetics play a role. Study authors hypothesized that submicroscopic chromosomal abnormalities known as copy number variations exist in HLHS patients and are more frequent in those with additional birth defects. Findings proved otherwise.
Access an abstract of this study: Submicroscopic Chromosomal Copy Number Variations Identified in Children With Hypoplastic Left Heart Syndrome. Pediatr Cardiol. 2012 Feb 21. [Epub ahead of print]
Caregiver Anxiety upon Discharge for Neonates with Congenital Heart Disease
Parents of children with congenital heart disease (CHD) have been shown to be at an increased risk of having psychosocial morbidities including anxiety, depression, and somatization. Little is known about the anxiety level of these parents during the initial hospital course. The goal of this study was to evaluate the anxiety level of the parents at the time of hospital discharge and to determine if certain characteristics predict higher anxiety levels.
Access an abstract of this study: Caregiver Anxiety upon Discharge for Neonates with Congenital Heart Disease. Congenit Heart Dis. 2011 Dec 18. doi: 10.1111/j.1747-0803.2011.00600.x. [Epub ahead of print]
Assessment of the Genetic Knowledge of Adolescents and Young Adults with Congenital Heart Defects and Their Parents, Anonymous (Sara Fitzgerald-Butt)
Exome Sequencing in Familial Congenital Heart Disease, National Institutes of Health (Kim McBride)