Marfan Syndrome, Aortic Dissection and the EMS Provider

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.

While other conditions (hypertension, pregnancy, coarctation of the aorta, bicuspid aortic valve, rare connective tissue conditions) have been associated with aortic dissection, nearly all Marfan syndrome patients are at high risk for aortic dissection at some point in their lives if they do not receive medical treatment and change their lifestyle.³ An estimated 200,000 people (one in 5,000) in the U.S. have Marfan syndrome.⁴ There are 5,000-10,000 dissections a year.

The symptoms of an aortic dissection can mimic a number of other problems, ranging from myocardial infarction or cholecystitis to the flu. In fact, physicians specializing in this condition refer to aortic dissection as the "great imitator." Classic symptoms are severe sharp, tearing or burning chest or back or abdominal pain unlike any pain previously experienced, and an overwhelming feeling that something is wrong. Pain may change location as the tear moves through the aorta. In some cases, pain, pallor, pulselessness, paresthesia and paralysis may be present in the extremities.⁵

"We have all (medical professionals) been preprogrammed to consider chest pain in males and older people to be cardiovascular disease," says Diane Sixsmith, MD, chair of the Department of Emergency Medicine at New York Hospital Medical Center of Queens. "We focus on the possibility of myocardial infarction and forget that other things can cause severe chest pain. We need to continually remind ourselves that other things besides an MI cause chest pain."⁶