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2000 Releases

Researchers Identify Protein that May Play Key Role in Congenital Heart Disease

For immediate release: June 27, 2000

Boston, MA--Some severe heart deformities in newborns may result when a key protein is missing during heart formation, according to researchers at the Harvard School of Public Health (HSPH), the University of Chicago, and Harvard Medical School. Their report is published in the July issue of Nature Genetics.

Jeffrey Leiden, director of the Center for the Prevention of Cardiovascular Disease at HSPH, and his colleagues have found that mice lacking a protein named Fog-2 develop a heart condition similar to one in humans called tricuspid atresia. Children with this disease are born without a valve in their hearts that allows blood to pump smoothly from their right atriums to their right ventricles. The blood instead seeps through holes in the walls that divide hearts into four chambers.

In normal heart development, tissues called endocardial cushions form the heart’s walls, valves, and chambers. The researchers hypothesize that a lack of Fog-2 creates defects in the endocardial cushions, preventing the heart from properly forming.

In their experiments, the researchers created mice that lack the gene that encodes the Fog-2 protein. The mice did not survive the embryonic stage, dying of congestive heart failure. After examining the hearts, the researchers found malformations similar to those in tricuspid atresia and another congenital heart disease named tetralogy of Fallot.

The researchers are now trying to determine if their findings are applicable to humans by studying the presence or absence of Fog-2 in people with tricuspid atresia.

"What this study suggests is that Fog-2 is intimately involved in the normal formation of the heart and its valves," said Leiden.

Tricuspid atresia accounts for between one and three percent of congenital cardiac disorders and can run in families, suggesting a genetic basis for the disease. Children born with the disease can expect to live to adulthood after surgical interventions.

For further information, please contact:

Robin Herman
Office of Communications
Harvard School of Public Health
677 Huntington Avenue
Boston, MA 02115
Phone: 617-432-4752