By studying five generations of a Dallas family, UT Southwestern Medical Center researchers have discovered that a mutation in a key gene causes aortic valve disease, a common heart birth defect as well as a major contributor to adult heart disease. In the study, available in the online edition of the journal Nature, researchers scanned the DNA of 11 members of a family that was affected with aortic heart disease. The patients ranged from children with severe narrowing of the aortic valve to 50- and 60-year-olds who had such severe calcium buildup on their heart valves that they required replacement valves. The UT Southwestern researchers found that all the relatives with some manifestation of aortic valve disease had a mutation in a gene called NOTCH1.A second, smaller family in San Diego afflicted with the heart disorder also had members with a second mutation in the same gene, providing convincing evidence that the researchers had found the genetic link to aortic heart disease, said Dr. Vidu Garg, assistant professor of pediatrics and molecular biology and lead author of the study.
