Gene's Mutations Found To Cause Life-Threatening Aortic Disease

Scientists have identified the first genetic mutations that cause the aorta – the body's main artery – to widen, tear and rupture. Published online by Circulation: Journal of the American Heart Association, the findings of a team led by University of Texas Medical School at Houston researchers shed new light on the molecular causes of thoracic aortic aneurysms and dissections. They also provide a new route for early warning of the condition, which builds slowly, usually with no symptoms, then often kills swiftly. "We found that mutations in the Transforming Growth Factor Beta Receptor Type II (TGFBR2) caused aortic aneurysms and dissections in four families. This gives us a molecular pathway to study for development of therapies and for biological markers of the disease," said Dianna Milewicz, M.D., Ph.D., director of the UT Medical School Division of Medical Genetics and senior author of the paper. Finding biological markers that flag aneurysm, a bulging of the aorta that leads to dissection, a lengthwise separation of tissues in the artery wall, is critically important for early diagnosis. Aneurysms can be managed initially with medication and then successfully repaired to prevent catastrophic dissection and rupture, Milewicz said. Many patients never have a chance at treatment because they go undiagnosed, even when they go to emergency rooms with severe chest pain because diagnostic tests for heart attack do not uncover aortic defects. Actor John Ritter, for example, died in September 2003 from an undiagnosed dissection that ruptured. Aortic aneurysms and dissections kill some 18,000 Americans every year. Research shows that 20 percent of those victims have close relatives who've had the disease.