Advancing the Science

Mayo Clinic Medical Science Blog – an eclectic collection of research- and research education-related stories: feature stories, mini news bites, learning opportunities, profiles and more from Mayo Clinic.

April 10, 2019

Genetic testing reveals risk, steps to prevent aortic dissection

By Susan Buckles

Article by Sharon Rosen

Stephanie Van Doren and her family

Stephanie Van Doren never realized that taking 30 mile bike rides in the Florida heat was putting her life at risk. But, care for digestive problems also uncovered that she was at risk for an aortic dissection, a potentially fatal condition that could occur with intense exercise. Her care team at Mayo Clinic’s campus in Florida quickly connected the dots. Her family history and physical exam painted a picture that pointed to a hereditary condition. They recommended genetic testing and the results provided lifesaving information to Van Doren and her family.

Unraveling a medical mystery through genetic testing

Sarah Macklin

Van Doren met with Sarah Macklin, a genetic counselor in the Department of Clinical Genomics and Center for Individualized Medicine.

During the first appointment, Macklin mapped Van Doren’s family medical history for three generations. They also discussed the benefits, risks, and limitations of testing, and what steps could be taken if any of the tests came back positive.

Van Doren had testing to explore two questions: did she have any identifiable genetic risk factors that significantly increased her risk of having a thoracic aortic aneurysm and aortic dissection? Did she have any identifiable genetic risk factors that significantly increased her risk for breast cancer since her sister had died from the disease at a young age?

Results showed that she did have the genetic risk factor for aortic dissection, but did not have a genetic risk identified for breast cancer.

“I was devastated that I was at increased risk for aortic dissection. This runs deep in my family and I had seen firsthand how it has affected my relatives," she says.

Many members of Van Doren’s family had an aortic dissection at a young age. The condition can be life threatening and occurs when the inner layers of the aorta, the large blood vessel branching off the heart, tear.

As a result, she and her family decided that her children should also have genetic testing. They met with Macklin to learn more about the process and implications.

“This second conversation is much different than the first,” explains Macklin. “We now are looking for a particular genetic variant that has been identified in a parent or other family member. We take time to explain to children – in terms that they can understand – what we are looking for, why we are looking for it and what it will mean if the test comes back positive.”

“It’s very important to be honest with children so they can understand and agree to have the testing, even if they are not old enough to give the consent themselves.”

Two of Van Doren’s three children have the gene variant linked to aortic dissection. She received these results first and then shared them with her children.

“It was important for me to have time to process the results myself and then explain them to my children,” she says.

Macklin also shared the genetic test results with Mayo specialists in Cardiovascular Medicine who are providing Van Doren e and her children with the monitoring and follow up care they need to stay healthy.

“Never did I imagine that I would have genetic testing, but thankfully I did – the results probably saved my life and will help my children live a healthier life.” she says. “It’s difficult to learn that you are at risk for such a serious condition. But now we have the information we need to be proactive and stay healthy.”

Know and share your family medical history with your health care team 

Timothy Woodward, M.D.

Van Doren first came to Mayo seeking relief from digestive problems. It was her gastroenterologist, Timothy Woodward, M.D., who first recognized that her family history plus characteristics he observed during her physical exam pointed to the possibility that she had a hereditary condition.

“Ms. Van Doren did what we hope all patients will do – know and share their family medical history with their physicians,” says Dr. Woodward. “This information plus a complete clinical evaluation allows us to provide patients with individualized care, tailored to their needs.”

Moving forward – living life to the fullest

“I have always led a very active lifestyle – enjoying skydiving and leading group fitness classes. Now I am unable to do these things. I can exercise, but I need to pay close attention to my heart rate and avoid intense exertion. My children can still do many of the activities they love and will continue to be monitored as they grow,” Van Doren explains.

Looking back, she reflects that there were definitely highs and lows during the genetic testing process. Thanks to the coordinated efforts of her Mayo Clinic care team, she and her family found the answers they needed.

“We have moved on – each day is filled with activities for 3 busy children – we’re living life to the fullest.”

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This article originally appeared on the Individualized Medicine blog on March 26, 2019

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Tags: Center for Individualized Medicine, genetic counseling, genetic testing, hereditary diseases, Innovations, News, People, Timothy Woodward

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