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

Artificial heart design features porous plastic foam

October 2, 2015

Artificial hearts with multiple moving parts increase the chance of failure; scientists have worked up a device which is a single piece. No less interesting is the material they used; the team is taking a page out of soft ...

What powers the pumping heart?

September 25, 2015

Researchers at the Ted Rogers Centre for Heart Research have uncovered a treasure trove of proteins, which hold answers about how our heart pumps—a phenomenon known as contractility.

Sticky gel helps stem cells heal rat hearts

September 24, 2015

A sticky, protein-rich gel created by Johns Hopkins researchers appears to help stem cells stay on or in rat hearts and restore their metabolism after transplantation, improving cardiac function after simulated heart attacks, ...


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.