Many may suffer from genetic mutation that affects aorta

By Haley Hernandez - Health Reporter

HOUSTON - Thoracic aortic dissection is a serious condition affecting the cardiovascular system. There is a way to prevent this sudden and deadly disorder, but many times, people don’t know they have it until it’s too late.

“Half of the family basically died of an aortic aneurysm,” Pat Arthur said.

Pat Arthur's family members died from what was assumed to be heart attacks, but the similar symptoms and ages when they died were suspicious enough for him to look deeper.

“They all died between 58 and 61,” Arthur said about half of the men in his family. “If I had not gotten in the study, I would have not known that I had a problem, because I exercise, even today I just finished a 20-mile bike ride this morning.”

It turns out, no matter Arthur's healthy lifestyle, a clinical study with UT Health showed that he has a gene mutation for the aortic dissection, meaning his aorta was stretched inside his chest and waiting to rupture.

Cardiovascular genetics expert at UT Health and memorial Hermann Dr. Dianna Milewicz says the disease is often missed, but can be easily detected with an echocardiogram, CAT scan or MRI. She said it can be treated with medications temporarily, but ultimately requires a surgical fix.

“So I had the procedure prophylactically so that I did not have to have it done in emergency,” Arthur said.

“If we know somebody has a mutant gene, then we can image for the aneurysm, treat the aneurysm and prevent the dissection. The problem is, if somebody ignores their family history, or ignores this risk, the aneurysms tend to be completely a symptomatic, you don't know you have one,” Milewicz said. She said it is what ultimately killed John Ritter and Alan Thicke.

Arthur says that knowing he was at risk is what saved his life.

“The underlying reasons that people died unexpectedly is invaluable, it's truly invaluable to me, but it's invaluable to us as a people and a population,” Arthur said in encouragement of future research.

This Saturday, the John Ritter Foundation Community Symposium will be held at the UT Health McGovern Medical School from 9:30 a.m. to 2:00 p.m. It is open to the public with RSVP; click here for details.

The foundation also plans to live stream the event on their Facebook page.

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