Specific gene mutations responsible for congenital heart defects

DALLAS July 6, 2003 Researchers at UT Southwestern Medical Center at Dallas have discovered a gene critical to the development of the human heart and that mutations in the gene lead to congenital heart defects the leading noninfectious cause of death in newborns.

GATA4 is only the second gene to have been identified as a cause of isolated congenital heart disease not associated with medically identified syndromes.

The findings will be published in a future edition of the journal Nature and appear online today.

The researchers identified mutations in the gene GATA4 as a cause of human cardiac septal defects, which occur when the walls separating the heart's four chambers do not form properly.

"In terms of identifying genetic etiologies, there are not many discoveries that have been made," said Dr. Vidu Garg, assistant professor of pediatrics and one of the study's lead authors. "This is one of the genes responsible, and we are working to identify others."

This discovery could one day help doctors prevent congenital heart defects the most common developmental anomaly by fixing the problem before a baby is born, said Dr. Deepak Srivastava, associate professor of pediatrics and molecular biology and the study's senior author.

"We cannot change the fact that parents are going to pass along the mutation, but we might be able to develop a way to keep the disease from occurring," said Dr. Srivastava.

In the Nature study, researchers from UT Southwestern and three Japanese medical institutions examined two large families: one in Dallas that spanned five generations and included 16 members suffering from congenital heart defects, and a family from Tokyo spanning four generations and with eight members with congenital heart defects.

UT Southwestern researchers and Dr. Rumiko Matsuoka, a pediatric cardiologist from Japan, gathered data from the families' medical history. Researchers also condu

Contact: Staishy Bostick Siem
UT Southwestern Medical Center

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