Genetic Cause For Congenital Heart Defect Found

In our four-chambered heart, the septum forms a physical barrier separating the left and right sides. Deepak Srivastava and colleagues analysed a large family with a history of congenital heart problems. They found that the GATA4 gene, located on chromosome 8, was mutated in individuals with septal defects, but remained normal in unaffected family members. Whereas conditions like cystic fibrosis arise when both copies of a mutated gene are present, just one copy of the altered GATA4 gene is enough to cause cardiac problems.

Congenital heart defects are the leading cause of non-infectious mortality in newborns. Nearly 50% of these involve damage to the septum, and open-heart surgery is needed to restore normal blood circulation. Screening for GATA4 mutations in humans with heart disease may help researchers understand how congenital heart diseases develop, and aid the discovery of therapeutic and preventative interventions.

Author contact:

Deepak Srivastava
(University of Texas Southwestern Medical Center at Dallas, TX, USA)
Tel: +1 214 648 1246
E-mail: Deepak.Srivastava@UTSouthwestern.edu

(C) Nature press release.

Message posted by: Trevor M. D'Souza