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Jason Merrill
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January 18, 2010, ST. LOUIS – While Marfan syndrome is a genetic disorder affecting one in 5,000 people, it is rare enough that all too often it can be misdiagnosed by physicians.

“Marfan syndrome can be fatal if it’s unrecognized and untreated,” says Alan Braverman, MD, Washington University cardiologist and director of the Marfan Clinic at Barnes-Jewish Hospital. “We call it a genetically triggered thoracic aortic aneurysm syndrome.”

Dissection of the aorta is the most prevalent risk associated with Marfan as the underlying connective tissue abnormalities can lead to sudden death.

To prevent this, Dr. Braverman helped develop a program with the National Marfan Foundation to educate emergency room staff on symptoms of Marfan’s.

“If a patient has routine follow-up and preventive surgery on the aortic root the individual with Marfan Syndrome can really expect to live a long life,” says Dr. Braverman. “Because someone is young and healthy looking, a person might not consider Marfan’s when a patient comes to the emergency room complaining of chest pains.”

Serving on the National Marfan Foundation’s board, Dr. Braverman worked with the New York Department of Health to develop videotapes and written materials for emergency rooms to help spot subtle symptoms:

-Disproportionately long arms and legs.
-Elongated fingers or loose fingers.
-Tall and lanky frame.

At Barnes-Jewish, Marfan is treated with a multidisciplinary approach under the guidance of Dr. Braverman. Genetic counseling, Washington University orthopedics and cardiac surgery, and the Barnes Retina Institute all play a part in correcting problems that stem from the disorder.

But in some cases, if Marfan isn’t caught in the emergency room, a patient might not get that far. “There’s a one percent per hour risk of death in the first two hours,” Dr. Braverman says. “Patients can’t risk waiting to be evaluated.”

Thanks to efforts like Dr. Braverman’s, people are living much longer with Marfan than ever before. “Thirty years ago, these patients only lived into their 30s,” he says.  “Now with treatment and surgery, the average life span is into the 70s.”