When Gary Stover needed knee surgery for a basketball injury a couple of decades ago, he assumed it would be a fairly routine experience. But the physicians treating him noticed his heart rhythm was abnormal at times, so they referred him for a cardiac assessment after his operation. That’s when he was diagnosed with Marfan syndrome.
Marfan syndrome affects connective tissue, and because that tissue is found throughout the body, the disorder can cause a variety of problems. People with Marfan syndrome are often, like Stover, tall and thin with especially long fingers, toes and arms. Some people have curved spines and chest bones, too, and others may have an increased risk of vision problems, including nearsightedness, cataracts and glaucoma.
The most serious symptoms, however, involve the heart. Most people with Marfan syndrome will eventually develop enlargement of the aorta, the main artery that carries blood from the heart to the rest of the body. They can have an aortic aneurysm, which is a bulge in the wall of the aorta, or a separation of the layers of the aorta.
Stover was diagnosed in 2005 with an aneurysm in the ascending aorta. Left untreated, this condition can lead to death, but Stover underwent a successful operation to insert an aortic graft and replacement valve and went back to living life as usual, working as an electrician and playing sports in his spare time.
But in the summer of 2016, things changed. Stover was again diagnosed with an aneurysm, this one abdominal, which is less common. His doctor told him he should quit his job and file for disability because his physically demanding work presented a health risk.
Stover needed surgery, but he also needed financial assistance to pay for it. The nonprofit Marfan Foundation, a health advocacy organization, gave him a list of institutions that provided the specialty care he needed. One of the places he contacted was the Marfan Syndrome Clinic at Washington University and Barnes-Jewish Hospital.
“I don’t know what I would have done if they had rejected me,” says Stover, who lives in Wichita, Kansas. “I thought my race was run. But they accepted me as a patient with financial assistance.”
Physicians at the Marfan Syndrome Clinic treat people with Marfan syndrome and related diseases. In an initial visit at the clinic, a patient may undergo a cardiology evaluation, an eye examination and a medical genetics evaluation. Patients like Stover are also likely to meet with a vascular surgeon during that first assessment.
At the end of Stover’s first visit to the clinic, he met with Washington University cardiologist at Barnes-Jewish Hospital Alan Braverman, MD, the clinic’s director, and lead geneticist Marcia Willing, MD, PhD, so they could determine a diagnosis. As these specialists did after meeting with Stover, they used virtual consultation—essentially a digital meeting—to discuss Stover’s case and needs before making treatment recommendations.
“Our approach really sets us apart from other institutions when it comes to the evaluation and treatment of patients with Marfan syndrome and other connective tissue disorders,” says Washington University vascular surgeon and chief of vascular surgery at Barnes-Jewish Hospital, Luis Sanchez, MD. “Our expertise in multiple specialties allows us to manage not only our patients’ vascular disease and cardiac disease but also their musculoskeletal problems and other health issues. In addition, we have significant experience with connective tissue disorders other than Marfan, which are relatively uncommon.”
A few weeks after Stover visited the clinic, Sanchez performed surgery to repair his aneurysm.
“We are very fortunate at Barnes-Jewish Hospital and Washington University to have an incredible team of cardiac and vascular surgeons performing complex aortic surgeries in these patients,” Braverman says. “Dr. Sanchez and his partners are experts in their field, and they are some of the most outstanding vascular surgeons in the country.”
Stover describes the care he received at the hospital as “amazing.”
“Every single person in that hospital—from the housekeepers to the physicians—was above and beyond incredible,” he says. “I never once felt like I was just a number. Dr. Braverman came to my room several times to see me, and I had some nurses that were just unbelievably wonderful.”
Stover’s recovery has been slow and steady. His life is different now; he’s not working, and he has to avoid high-intensity exercise to reduce his risk for further heart problems. But he’s definitely happy. His recovery at home this summer gave him lots of time with his 12-year-old daughter, Kennedy. And with the spare time he has, Stover says he hopes to educate and mentor other people with Marfan syndrome.
“I feel like I was given a second chance at life, and if I can volunteer my time to help somebody—to further their knowledge—it would be a blessing,” Stover says.
It’s estimated that one in 5,000 people has Marfan syndrome. It can be hard to diagnose, however, because many of its symptoms are common in the general population, and its features can vary widely from person to person. Some remain undiagnosed until they experience a catastrophic event like an aortic rupture.
The Marfan Syndrome Clinic at Washington University and Barnes-Jewish Hospital collaborates with the Marfan Foundation to increase awareness of the disorder and emphasize the importance of early detection.
“Twenty-five years ago, if I gave a lecture to the lay population and asked whether anyone had heard of Marfan syndrome, there would be very few hands raised,” Braverman says. “But today it is much more common for people to have heard of it. Recognition and early diagnosis are key so that patients can have preventive aortic surgery, which is lifesaving.”
People with Marfan syndrome who make lifestyle modifications and are properly monitored and treated can live into their 70s and beyond. At age 48, Stover is doing all the right things.
“I just want to maintain a good, healthy life,” he says. “I want to see my daughter grow up and take on the world.”