New Marfan Syndrome Clinic in Omaha
May 24, 2015 05:22PM ● Published by MED Magazine
Ask Anji Yetman, M.D., director of Vascular Medicine, Cardiology at Children’s Hospital & Medical Center, about the rewards of treating patients with Marfan syndrome, and she seeks out the pictures pinned around her office: an adult patient surrounded by her three beaming daughters, a dapper-looking teenager who, as a baby, was diagnosed with a severe form of the disease.
“With the right care, he’s been able to lead a very normal life,” she shares.
Marfan syndrome, a genetic disorder affecting approximately one in 5,000 men and women of all ages and ethnic groups, impacts the body’s connective tissue, an anomaly linked to the abnormal production of fibrillin-1 protein. Patients are typically (but not always) tall and thin, with long limbs. They tend to have eye issues, including lens dislocation, and certain bony abnormalities such as scoliosis, chest bone deformities, and/or long fingers and toes. More critically, they are predisposed to developing aortic enlargements, aneurysms and dissections.
“Marfan syndrome is just one cause of a dilated aorta, but it is the prototype of all diseases of the aorta. It’s the one we know most about,” Dr. Yetman says.
Most patients—75 percent—inherit Marfan syndrome from a parent. The remainder of the cases arise de novo as a result of a spontaneous mutation. Diagnosis begins with a scoring system.
“We look at the patient; we take a number of measurements and then we add up points for each feature they have. If they have a certain score that determines that ‘yes’ they have Marfan syndrome or ‘no’ they don’t. The diagnosis, most often, is a clinical diagnosis,” Dr. Yetman explains.
After Marfan syndrome is diagnosed, a baseline echocardiogram helps evaluate the size of the aorta and whether it is proportional to the size of the patient. “After that initial visit, we like to see them in six months’ time to make sure their aorta is stable. If it is stable, they typically come in for a yearly checkup with a visit and an echocardiogram.”
The new Marfan Syndrome Clinic at Children’s is working to make an impact on the front — and a very real difference in people’s lives. “Twenty years ago, Marfan syndrome was somewhat of a death sentence and that’s not the case now,” Dr. Yetman says.