From KMOV News, July 27, 2005

Belleville, IL (KMOV) -- Experts say the connective tissue disorder Marfan syndrome is often misdiagnosed in patients who don''t fit the profile and the results can be fatal.

One local woman wouldn''t let doctors dismiss her symptoms and it saved her life.

Jennifer Clark warned doctors she might have Marfan syndrome when she felt sick. After all, her father had the disorder.

"I went to an ER. Unfortunately, whether they were busy or didn''t take a 26-year-old seriously having chest pains, they did an EKG and said you''re fine go home and take some Tylenol," said Clark.

Clark went for a second opinion and was diagnosed with an aortic aneurysm. If it burst or dissected it could have caused her to bleed to death. Surgeons replaced the enlarged vessel that carries blood from her heart.

Clark''s outward symptoms are subtle. She''s short but her fingers are disproportionately long for her frame. A typical build of someone with Marfan syndrome, tall and lanky like a basketball player or Abraham Lincoln.

There is no one test to diagnose Marfan syndrome. That is why doctors use a combination of echocardiogram of the heart, eye exam and physical exam to make the diagnosis.

Dr. Alan Braverman says get tested if you suspect Marfan syndrome.

"If one is not diagnosed with Marfan syndrome, typically someone with Marfan syndrome could die or suffer dissection in their 30s or 40s," he warns.

Barnes-Jewish Hospital is hosting the National Marfan Foundation annual conference August 4th to the 7th. There will also be a free clinic for some patients to help them with a diagnosis or care.