Gene Study Sheds Light on Often Fatal Heart Condition

Duplicate in chromosome 16 region linked to raised threat of aneurysm that causes aortic dissection

FRIDAY, June 17 (HealthDay News) -- Researchers have pinpointed a genetic risk factor for a potentially fatal heart problem called thoracic aortic dissection.

The life-threatening condition was the cause of the sudden death of actor John Ritter in 2003 at the age of 54.

Now, genetics researchers at the University of Texas Health Science Center at Houston and the Baylor College of Medicine found that people with duplications in DNA in a region of chromosome 16, designated 16p13.1, have a 12-fold increased risk for thoracic aortic aneurysm, an abnormal bulge caused by weakness in the wall of the aorta, the largest artery in the body. The aneurysm can lead to an aortic dissection -- a usually fatal tear in the aorta.

The new findings were published June 16 in the online journal PLoS Genetics.

"The results of this study could affect clinical care because it appears patients with 16p13.1 duplications have an aggressive form of the thoracic aortic disease that causes aneurysms to dissect at smaller diameters," the study's senior author, Dr. Dianna Milewicz, professor and the President George H.W. Bush chair in cardiovascular research, and director of the medical genetics division at the University of Texas Medical School at Houston, said in a journal news release.

"Once doctors are able to use the entire genome, people with duplications in 16p13.1 would need to have their aortas monitored," Milewicz said.

Each year in the United States, about 10,000 people die from thoracic aortic aneurysm and dissection, making it the 15th leading cause of death in the nation, according to background information in the news release.

While aneurysms usually have no obvious symptoms until they dissect or become very large, the U.S. National Library of Medicine states that the most common sign of aortic dissection is a sudden severe onset of chest pain described as a sharp, tearing sensation.

More information

The Society for Vascular Surgery has more about thoracic aortic aneurysm.

Robert Preidt SOURCE: PLoS Genetics, news release, June 16, 2011

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