Genetic Cause of Heart Defects Identified by March of Dimes Grantee

March of Dimes
Monday, 7 July 2003

Genetic mutations of a single gene cause some common and serious birth defects of the heart, according to a researcher supported in part by the March of Dimes. The study was published today in the journal Nature.

Deepak Srivastava, M.D., associate professor of Pediatrics and Molecular Biology at the University of Texas Southwestern Medical Center at Dallas, and colleagues found that mutations in the GATA4 gene can cause cardiac septal defects, which account for nearly 50 percent of congenital heart defects and require open-heart surgery.

"Congenital heart defects are still the most lethal group of birth defects in America, despite many improvements in surgical techniques," said Michael Katz, M.D., senior vice president for Research and Global Programs at the March of Dimes. "That's why Dr. Srivastava's work to learn more about the molecular pathways responsible for fetal heart development is so important to treatment and prevention, including genetic counseling for affected families," he said.

Based on studies of families affected by cardiac septal defects and analyses of their DNA, Dr. Srivastava and his colleagues conclude that the GATA4 gene is essential for normal separation of the heart into right-sided and left-sided chambers during development. They also suggest that the GATA4 gene may be one of a small subset of genes and gene products that cooperate during normal heart development.

"GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5," by Vidu Garg et al. was published online in Nature on July 6, 2003.

Dr. Srivastava has a three-year grant from the March of Dimes to study a genetic syndrome that includes heart malformations.

The March of Dimes is a national voluntary health agency whose mission is to improve the health of babies by preventing birth defects and infant mortality. Founded in 1938, the March of Dimes funds programs of research, community services, education, and advocacy to save babies and in 2003 launched a five-year campaign to address the increasing rate of premature birth. For more information, visit the March of Dimes Web site at, its Spanish Web site at, or call 1-888-MODIMES. For more information on the annual March of Dimes WalkAmerica, visit the Web site at

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