Gene variant raises risk for aortic tear and rupture

April 17, 2014

Researchers from Yale School of Medicine and Celera Diagnostics have confirmed the significance of a genetic variant that substantially increases the risk of a frequently fatal thoracic aortic dissection or full rupture. The study appears online in PLOS ONE.

Thoracic aortic aneurysms, or bulges in the artery wall, can develop without pain or other symptoms. If they lead to a tear—dissection—or full rupture, the patient will often die without immediate treatment. Therefore, better identification of at risk for aortic aneurysm and dissection is considered essential.

The research team, following up on a previous genome-wide association study by researchers at Baylor College of Medicine, investigated genetic variations in a protein called FBN-1, which is essential for a strong arterial wall. After studying hundreds of patients at Yale, they confirmed what was found in the Baylor study: that one variation, known as rs2118181, put patients at significantly increased risk of aortic tear and rupture.

"Although surgical therapy is remarkable and effective, it is incumbent on us to move to a higher genetic level of understanding of these diseases," said senior author John Elefteriades, M.D., the William W. L. Glenn Professor of Surgery (Section of Cardiac Surgery) at Yale School of Medicine, and director of the Aortic Institute at Yale-New Haven Hospital. "Such studies represent important steps along that path."

The researchers hope their confirmation of the earlier study may help lead to better clinical care of patients who may be at high risk of this fatal condition. "Patients with this mutation may merit earlier surgical therapy, before aortic dissection has a chance to occur," Elefteriades says. Yale cardiothoracic surgeons will now begin assessing this gene in clinical patients with aneurysm disease.

Explore further: Study examines risk of aortic complications among patients with common congenital heart valve defect

More information:

Related Stories

Risk for nonelective thoracic aortic sx up for uninsured

April 16, 2014

(HealthDay)—Uninsured patients have an increased risk of nonelective thoracic aortic operations, and have increased risks of major morbidity or mortality, according to a study published online April 8 in Circulation: Cardiovascular ...

Recommended for you

Researchers find sleep gene linked to heart failure

November 30, 2015

Researchers at the Stanford University School of Medicine have identified a gene that, when working properly, appears to reduce the risk of heart failure and improve treatment outcomes, highlighting a possible target for ...

No new heart muscle cells in mice after the newborn period

November 5, 2015

A new study from Sweden's Karolinska Institutet shows that new heart muscle cells in mice are mainly formed directly after birth. After the neonatal period the number of heart muscle cells does not change, and A new study ...

Nanotechnology could spur new heart treatment

October 29, 2015

A new nanoparticle developed by University of Michigan researchers could be the key to a targeted therapy for cardiac arrhythmia, a condition that causes the heart to beat erratically and can lead to heart attack and stroke.


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.