The cardiac outflow tract (OFT) connects the ventricles of the heart with the aortic sac during embryonic development. OFT defects lead to congenital heart disease and affect between 1 and 2 in 1,000 live births. Although the 22q11.2 deletion syndrome (loss of a portion of chromosome 22) is one of the most frequent genetic causes cardiac OFT defects, other causes remain to be found.

Bin Zhou, M.D., Ph.D., and Bernice Morrow, Ph.D., have received a four-year, $2.6 million National Heart, Lung, and Blood Institute grant to study the molecular and cellular mechanisms downstream from the 22q11.2 deleted region that may be implicated in other OFT defects. The role of endocardial cells in OFT malformations has not been well studied, and Drs. Morrow and Zhou hypothesize that 22q11.2 deletion syndrome genes control OFT development by regulating the function of endocardial cells that form the cardiac OFT. Using a mouse model of 22q11.2 deletion syndrome that experiences a variety of OFT defects, the researchers hope to gain insights into the molecular mechanisms that cause OFT defects and develop strategies for treating or even preventing those defects.

Dr. Zhou is professor of genetics, of pediatrics and of medicine at Einstein. Dr. Morrow is professor of genetics, of obstetrics & gynecology and women's health, and of pediatrics and the Sidney L. and Miriam K. Olson Chair in Cardiology and director of translational genetics at Einstein. (1R01HL159515-01)