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

This recognition can begin when the ambulance arrives at a scene to find a patient exhibiting the above symptoms. Sixsmith says that "anyone with known Marfan syndrome must be considered to have an aortic dissection." The problem here is that many people with this condition are undiagnosed. Sixsmith cannot provide an estimate, but says a "fair number of cases are undiagnosed." A family history of Marfan syndrome, aortic dissections/aneurysms or certain physical characteristics associated with this condition may also help the EMS provider begin to consider that an aortic dissection is occurring. Of course, not all Marfan syndrome patients have the physical traits of the condition.

The New York State Department of Health has issued an educational advisory for prehospital providers on Marfan syndrome and aortic dissection,⁷ stressing that physical examination, patient history and assessment are the important points that can suggest the possibility of an aortic dissection to EMS providers. If a patient says he has Marfan syndrome, rapid transport to definitive care with treatment provided en route should be considered.

In other cases, aortic dissection should be considered if the patient describes:

• Symptoms of shock
• Pain or paresthesia in extremities
• Pain in the front or back of chest or upper abdomen as ripping, tearing or sharp like a knife. At times, it may be described as pleuritic.
• Symptoms of a stroke, particularly in a younger patient.

Attention should also be paid to the patient's physical characteristics. If aortic dissection is suspected, the BLS provider should follow the state or regional treatment and transport protocol for shock. ALS should follow the same protocol, and medical control may consider a beta blocker or calcium channel blocker to slow the pulse and make the heart beat with less force.⁸ Aortic dissection may occur within seconds or over several months.⁹

Raising the possibility of aortic dissection to the waiting emergency department staff may be the key for EMS providers. The National Marfan Foundation (NMF) is aware of a case where the patient told emergency staff he had Marfan syndrome, yet the possibility of an aortic dissection was not considered and the patient died.¹⁰

While Sixsmith says it may be helpful in an urban setting to raise the possibility of an aortic dissection to the emergency physician, the greatest opportunity for EMS comes in a prolonged transport situation, such as with rural or remote EMS services.

"In remote situations, it is important for the EMS provider to raise the awareness of Marfan syndrome and aortic dissection to hospital staff," she says. "Urban facilities may be familiar with this condition, but smaller and more isolated facilities likely are not," she says.

When there is a possibility of an aortic dissection that requires prolonged transport, it is important to radio ahead so the hospital can prepare diagnostic equipment and call in appropriate staff for diagnostic tests (CT scan, in particular).11 In the case of aortic dissection, time is of the essence, and several hours can make the difference between life and death.

Aortic dissection was not considered treatable 40 years ago, but surgical techniques and technology have improved significantly. Now, it is estimated that greater than 85% of correctly diagnosed aortic dissection patients will survive surgery and have a good-quality life;12 however, they have to be correctly and quickly diagnosed and treated. Many Marfan syndrome patients who are diagnosed early and receive treatment, including surgery to repair the aorta before it dissects or ruptures, can expect to live into their 70s or beyond.

The most common place for a person to present with aortic dissection is an emergency department. The NMF has developed an educational package to help raise awareness of and educate emergency department staff about what Marfan syndrome is, what the symptoms of an aortic dissection are, and the probability of aortic dissection associated with Marfan syndrome.

Another issue for EMS providers involves state and regional guidance that usually dictates where EMS is to take the patient. This is usually the closest hospital, but may allow the hospital of choice if it is not a long transport time. If the patient knows he has Marfan and knows the hospital where the specialists he needs practice, this may result in the patient requesting transport to a hospital with a long transport time. (If the patient is unstable, transport to the closest hospital "no matter what the patient wants," according to Sixsmith.)

The NMF is aware of one fatality from aortic dissection in a known Marfan patient due to inability to transport to the hospital of choice.¹⁰ The patient died before he could be transferred again. While the policy of the EMS service and state guidance may dictate where the ambulance transports the patient, provider awareness of Marfan syndrome, potential aortic dissection and the need for specialized immediate treatment may, in the short term, influence the decision. In the long term, it can also help develop broader transport time guidance.

Whatever the situation, Sixsmith says, there are three critical issues when potentially dealing with an aortic dissection:

1. Trust your instincts and your patient. A 28-year-old male may not be the typical middle-aged male with chest pain, but he knows when there is something seriously wrong. Trust him.
2. Know the risk factors for aortic dissection: Marfan syndrome, a family history of Marfan syndrome (or "early heart-related death"), other rare connective tissue disorders (such as Turner's syndrome--a chromosomal condition in women causing short stature and infertility), hypertension, bicuspid aortic valves or a family history of aortic dissection.
3. Recognize that things other than an MI can cause chest pain.

For more information, contact the National Marfan Foundation, www.marfan.org, 800/8-MARFAN, staff@marfan.org. The Foundation provides a number of publications and videotapes for medical professionals, as well as for people dealing with Marfan syndrome.

References

1. Steve Marpman, Marfan syndrome patient in New York, telephone interview, June 22, 2004.
2. Emergency Diagnosis and Treatment of Aortic Dissection. Continuing medical education video produced by the National Marfan Foundation, Port Washington, NY.
3. Ibid.
4. Emergency Diagnosis and Treatment of Aortic Dissection (booklet), pg. 3. National Marfan Foundation, Port Washington, NY.
5. Ibid.
6. Diane Sixsmith, MD, chair, Department of Emergency Medicine, New York Hospital Medical Center of Queens, Flushing, NY. Telephone interview, April 13, 2004.
7. New York State Department of Health, Educational Advisory, The Marfan Syndrome and Aortic Dissection, November 1997.
8. Ibid.
9. Hal Dietz, MD, cardiologist and geneticist, The Johns Hopkins Hospital, chairman of the Professional Advisory Board, National Marfan Foundation. Emergency Diagnosis and Treatment of Aortic Dissection. Continuing medical education video produced by the National Marfan Foundation, Port Washington, NY.
10. Eileen Masciale, publicity director, National Marfan Foundation, Port Washington, NY. Telephone interview, March 2004.
11. Emergency Diagnosis and Treatment of Aortic Dissection (booklet), pg. 8. National Marfan Foundation, Port Washington, NY.
12. Emergency Diagnosis and Treatment of Aortic Dissection. Continuing medical education video produced by the National Marfan Foundation, Port Washington, NY.

Betsey S. Foster, MPH, a freelance health writer and the marketing director for Wilderness Medical Associates in Bryant Pond, ME. This article was inspired by a friend who died of complications of Marfan syndrome and is an attempt to raise awareness of this condition.