Marfan Syndrome: A Little Known But Treatable Disease
On January 24, 1986, Flo Hyman, a U.S. Olympian and one of the greatest women’s volleyball players in the world, collapsed during a game and died of a ruptured aorta. She was 31.
On January 25, 1996, playwright Jonathan Larson, whose musical “Rent” was about to open on Broadway and go on to become a Pulitzer Prize and Tony Award winner, died of an aortic dissection. He was 35.
The untimely deaths of Hyman and Larson resulted from the same undiagnosed disorder: Marfan syndrome. They represent hundreds of people whose lives were cut short because the symptoms of the disease went unrecognized and untreated.
Alan Braverman, MD, a Washington University cardiologist at Barnes-Jewish Hospital, and his colleagues are working to bring greater awareness of Marfan syndrome to physicians and those who may have the disorder. Dr. Braverman has a personal interest in educating people about the disorder: His father died at age 46 from an aortic dissection or tear resulting from undiagnosed Marfan syndrome. His brother and nephew both have the disease.
“Marfan syndrome occurs in approximately one in 5,000-10,000 people, about the same frequency as cystic fibrosis, muscular dystrophy and hemophilia,” says Dr. Braverman. “But whereas these diseases are well-known to physicians and the public in general, Marfan syndrome remains a relatively unfamiliar disease.”
Dr. Braverman is director of the Marfan Syndrome Clinic at Barnes-Jewish Hospital and Washington University School of Medicine. The clinic is the largest of its kind in the Midwest and among the largest in the country.
“Our clinic is unique because we offer multidisciplinary evaluation and treatment for patients in one day at one site by a group of dedicated experts who have the patient’s best interests in mind,” comments Dr. Braverman. “Since we evaluate more than 100 patients each year for the syndrome, the major advantage of coming to our clinic is that our specialists can identify subtle features of the disorder that others may not recognize.”
All new patients undergo multidisciplinary evaluation by Dr. Braverman, Dr. Alison Whelan (director of the Adult Medical Genetics Clinic), and Dr. Kevin Blinder and colleagues from the Barnes Retina Institute. Dr. Marc Moon evaluates patients for cardiac surgery, while Dr. Keith Bridwell and Dr. Larry Lenke provide spine consultations. Children suspected of having Marfan syndrome undergo evaluation at the St. Louis Children’s Hospital Marfan Clinic.
Diagnosing the diseaseMarfan syndrome is a genetic disorder of the connective tissues that affects many organ systems, including the skeleton, lungs, eyes, heart and blood vessels. The most serious complications of the disorder are aortic aneurysm and dissection, mitral valve disease, visual loss caused by lens dislocation or retinal detachment, and spine abnormalities. It affects men and women of any race or ethnic group equally.
“Connective tissue is the tissue that supports and connects other tissues and parts of the body. Essentially, it is what holds the body together,” explains Dr. Braverman. “Approximately 75 percent of Marfan syndrome cases result from a defective gene passed down from a parent to a child. Only one defective gene is needed to cause Marfan’s, which means a parent with the syndrome has a 50 percent chance of having a child who develops the disease. In the remaining 25 percent of cases, a gene mutation occurs spontaneously, and there is no family history of the disorder.”
Common traits of people with the syndrome include being exceptionally tall, lanky and loose-jointed with long, spidery fingers. Other outward physical symptoms may include a curved spine; a chest bone that curves in or out; a narrow, elongated head; and nearsightedness. However, not all patients have these obvious physical characteristics, which makes the disorder sometimes difficult to diagnose.
“My own family is an example of how outward features of Marfan syndrome can vary,” says Dr. Braverman. “Other than being tall, my father didn’t have many obvious traits. In contrast, my brother has many Marfan features. This underscores the importance of having a complete evaluation when Marfan syndrome is suspected or when unexplained aortic dissection occurs in a family.”
Early diagnosis and treatment is keyIn years past, the difficulty identifying the enlarged aortas caused by Marfan syndrome meant most patients died of cardiac complications by their 30s. The development of diagnostic tools such as computerized tomography (CT) scans, magnetic resonance imaging (MRI) and echocardiography has greatly improved the ability to detect the cardiac features of the disorder.
“When we evaluate patients suspected of having Marfan syndrome or hereditary aortic disease, we look at all of the organ systems that can be affected by the disease and pay particular attention to the family history,” says Dr. Braverman. “The disease is diagnosed when multiple organ systems are involved with major features. This highlights the importance of multidisciplinary evaluation.”
Once diagnosed, Marfan syndrome is treated medically and corrected surgically. Medications called beta-blockers can reduce stress on the aorta. Cardiovascular exams with echocardiograms are scheduled at least annually to monitor the size of patients’ aortas and to detect any other heart problems. Frequent eye and skeletal exams are recommended. Many patients need heart surgery to replace the aorta and treat valve lesions.
“Lifestyle modifications also are necessary to reduce stress on the aorta, which means elimination of contact sports for athletes,” says Dr. Baverman. “This is especially difficult for some teens and young adults, whose height and ability means sports like basketball are important focuses in their lives. It is our goal to provide counseling to these young patients so that they more easily accept the changes they need to undertake in order to stay safe and make healthy choices.”
The clinic also provides genetic counseling so patients with Marfan syndrome understand the chances of passing the disease along to their children. For women, Barnes-Jewish Hospital experts in high-risk obstetrics address complications that may arise during pregnancy.
“Patients with Marfan syndrome who are diagnosed early, followed carefully and receive appropriate surgical treatment when needed can extend their lifespan into their 70s and beyond,” says Dr. Braverman.
New fund supports clinic’s goalsIn September 2004, the Marfan Syndrome Clinic Fund was established at Barnes-Jewish Hospital Foundation to further the scientific and educational goals of the hospital’s clinic. The fund also will support the clinic’s sponsorship of the 21st Annual Conference of the National Marfan Foundation, which will be held in St. Louis.
“We have already partnered with the Continuing Medical Education Department at Washington University and the National Marfan Foundation to develop an educational videotape for emergency room physicians,” says Dr. Braverman. “Through the Marfan Syndrome Clinic Fund, we hope to continue pursuing educational opportunities such as these, as well as enhancing our data collection for our research efforts.” The Marfan Syndrome Clinic is part of a multicenter international study of aortic surgery to detect optimal surgical techniques.
An important message Dr. Braverman wants to convey is that if diagnosed and treated early, Marfan syndrome has a much more favorable prognosis than in years past. “When patients become aware of the support and expertise we offer at the clinic, it makes them feel confident they can live a long, fulfilled life,” he says. “Helping people with Marfan syndrome come to that realization is gratifying for all of us involved in their care.”
For more information about Marfan syndrome, click here: marfan.org
