Do Thoracic Aortic Aneurysms Have a Genetic Cause?

The latest research has discovered an association between a common genetic variant and a possible predisposition to an acute aortic dissection (AAD). The genetic variant’s presence may double one’s risk of developing AAD.

The vast majority of people who suffer an AAD have a pre-existing aortic aneurysm, which typically grows over time but usually produces no symptoms.

“This is the first time we’ve found an association with a common genetic variant in the population that predisposes people to thoracic aortic aneurysms that cause acute aortic dissections,” says Dianna M. Milewicz, MD, senior study author, professor at The University of Texas Medical School at Houston.

The genetic variant is on chromosome 15. The gene involved is called FBN1. It has already been established that mutations in FBN1 cause Marfan’s syndrome, which predisposes patients to aortic aneurysms and hence, AAD.

“Although patients with aortic dissection in our study did not have Marfan syndrome, this study suggests that the same pathways are involved in causing aortic dissections in patients with and without Marfan syndrome.”

This latest research may pave the way for using medications to even prevent these aneurysms from developing in the first place. One such drug under scrutiny is losartan, currently being tested on Marfan’s patients in clinical trials.

Dr. Milewicz says that what the researchers uncover in the Marfan’s trials will have implications in treating patients with these aneurysms who do not have Marfan’s or other genetic conditions that are associated with the aneurysms.

In fact, about 80 percent of people with this disease of the aorta, and dissections, do not have a known genetic basis for the condition.

When a person is diagnosed with an aortic aneurysm, he or she is told to avoid heavy lifting or “avoid lifting weights.” This instruction is open to very subjective interpretation, so often, a doctor will ascribe a numerical limit, such as, “Don’t lift more than 50 pounds,” or, “Don’t lift more than half of your body weight.”

Does this mean it’s safe for a 405-pound person with aortic aneurysm to lift 200 pounds? Does this mean it’s okay to lift under 50 pounds – say, 45 pounds – over one’s head – 20 times in a row?

I interviewed Dr. Allen Stewart, Director, Aortic Surgery Program, NewYork-Presbyterian Hospital/Columbia University Medical Center, New York, NY.

The result of my interview are detailed guidelines for weight lifting enthusiasts who’ve been diagnosed with aortic aneurysm. End the confusion and read that interview right here.


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