EMT-B Steve Marpman had just finished a shift with a New York City area ambulance service and was relaxing at home with a friend when he started having pain in his chest that radiated down his arm. He was scared and anxious like he had never been before, thinking, "Oh my gosh, I'm only 25 years old, and I have the signs and symptoms of a heart attack. This can't be."

When he asked his friend to call 9-1-1, she thought he was joking, but when she took one look at him, she knew he wasn't. By the time the ambulance arrived, Steve realized he was losing a lot of fluid and felt like he was hemorrhaging somewhere. He was disoriented, dizzy, pale and nauseated, but there was no sign where the blood was coming from or going.

A series of coincidences ended up yielding a correct diagnosis and lifesaving immediate surgery once Steve reached the hospital. He was deteriorating fast when an on-duty cardiac resident remembered a lecture about Marfan syndrome and ordered a CT scan, which confirmed a diagnosis of aortic rupture that is often associated with the condition. The cardiac surgeon who would repair the rupture was still in the hospital parking lot preparing to leave for the evening when he was called in. A number of hours later, Steve's ascending aorta, which had distended to about 10 centimeters--compared to the usual three centimeters as the aorta arises from the heart's left ventricle--was repaired, and he was diagnosed with Marfan syndrome.¹

Steve was one of the lucky ones. He was taken to a hospital where someone was familiar with Marfan syndrome and which had the facilities to treat him. Others, like 35-year-old Pulitzer Prize- and Tony Award-winning composer Jonathan Larson, were not so lucky. Larson's dissection spread over three days, during which time he went to two New York City hospital emergency departments on two successive evenings, where he was first told he had food poisoning, then the flu. The third night, he collapsed and died of an undiagnosed aortic dissection caused by Marfan syndrome.²

Marfan syndrome is one of those unusual conditions that is seldom diagnosed until there is a crisis--an aortic dissection. According to the National Marfan Foundation, misdiagnosis of the dissection is a too frequent cause of Marfan syndrome patient fatalities. Recognition of symptoms and awareness of this condition at all stages of medical care are key to reducing fatalities.