From BJC Today by Jason Merrill, September, 2002

Jennifer Clark knew the emergency room physicians were wrong, but they wouldn''t listen.

In 1996, Clark went to her area emergency room in Illinois complaining of chest pains. Because her father had aortic surgery for Marfan syndrome over ten years ago, she suspected the hereditary condition was just revealing itself at age 25.

Marfan syndrome is a genetic disorder affecting connective tissue. Chest pain from an enlarged aorta is a red flag the condition is worsening, but the doctors treating Clark told her Marfan''s was out of the question.

"They told me to go home, lie down and take some Tylenol," she says. At 5"4'', Clark does not have the most obvious sign of Marfan''s — a tall and lanky figure — so she decided to get a second opinion.

"I walked out of the emergency room and came to St. Louis where the doctors at Barnes-Jewish were educated and immediately referred me for tests," she says.

Those tests came back to show Clark had an enlarged aorta and she did indeed have Marfan''s like her father.  After 18 months of treatment with beta-blockers, she had surgery to correct the problem and now at age 31 is leader of the Marfan Support Group''s St. Louis Chapter.

Clark is one of the estimated 56,000 people nationwide who suffer from Marfan syndrome, and she is one of many who are misdiagnosed at the emergency room.

Alan Braverman, MD, is trying to change that. Dr. Braverman is director of the Marfan Clinic at Barnes-Jewish Hospital and associate professor of medicine at Washington University School of Medicine. A program he helped develop with the National Marfan Foundation seeks to educate emergency room staff on the symptoms of Marfan.

According to Braverman, situations like Clark''s happen far too often. "Because someone''s young and healthy looking, they might not consider Marfan''s when someone 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 video tapes and written materials for emergency rooms to help spot the subtle symptoms that can be missed. Disproportioned long arms and legs, elongated fingers or loose fingers, and the aforementioned tall and lanky frame are all symptoms.

To Clark, Dr. Braverman''s efforts are lifesaving. "It''s irreplaceable education," she says.

Once Marfan''s is diagnosed, beta-blockers are used to ease strain on the aorta, and a change in lifestyle is enforced to lessen stress.  After that therapy, a dacron graft is used to replace the first several centimeters of the large aorta through surgery.

At Barnes-Jewish Hospital, Marfan''s is treated with a multidisciplinary approach under the guidance of Dr. Braverman.  Genetic counseling, Washington University orthopeadics 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''s isn''t caught in the emergency room, a patient might not get that far.

"There''s a 1% per hour risk of death in the first two hours," says Dr. Braverman, "So patients can''t risk waiting to be evaluated."

Thanks to efforts like Dr. Braverman''s, people are living much longer with Marfan''s than ever.  "Thirty years ago, these patients only lived into their thirties," he says.  Now with treatment and surgery, the average life span is into the seventies.