TV Tragedy on 'ER' Too Often Imitates Reality: National Marfan Foundation Working to Save Lives Otherwise Lost in Emergency Departments


Contact:
Eileen Masciale
Consulting Director of Communications
631-665-2163
publicity@marfan.org


PORT WASHINGTON, NY, October 4, 2001 - According to the National Marfan Foundation (NMF), patients with an aortic dissection (a tear in the large artery carrying blood away from the heart), such as the character on tonight's episode of "ER" (NBC-TV) whose dissection is initially misdiagnosed and dies as a result, can be saved if the correct diagnosis is made immediately and appropriate treatment is instituted. For Lee Norton, the 21-year-old who portrays the dying patient on "ER," this message hits close to home because aortic dissection claimed the lives of his brother, his uncle and his aunt. Both Lee and his mother - like his other relatives - are affected by the Marfan syndrome, a genetic disorder of connective tissue, which increases the risk of aortic dissection 100-fold. Other risk factors for aortic dissection are high blood pressure, bucuspid aortic valves and Turner syndrome (a chromosomal disorder that can affect women).

"In my family, it took the death of my 15-year-old brother for us to learn about the Marfan syndrome, but it's not too late for others," said Lee, currently a student at the University of Utah whose diagnosis led to his interest in becoming a cardiothoracic surgeon. "I hope viewers realize that someone with the Marfan Syndrome can appear very 'normal' until disaster strikes. By recognizing the characteristics of the disorder, people can seek diagnosis and treatment, and doctors can recognize a potential crisis before it happens."



Limited Suspicion of Aortic Dissection Leads to Deaths



Due to limited awareness or lack of suspicion of an aortic dissection among medical professionals, tragic cases continue to be reported to the NMF in which relatively young individuals have chest pains that are misdiagnosed in a hospital by emergency physicians and subsequently die of an aortic dissection. The most high profile case was the death of Tony Award-winning Rent playwright, Jonathan Larson, who was sent home from two different New York City hospitals - one diagnosed him with the flu, the other food poisoning - only for him to die alone in his apartment of an aortic dissection before his hit play opened on Broadway. Larson, like many people who have the Marfan syndrome, exhibited many outward signs of the disorder, which include tall stature (or taller than other members of their family); disproportionately long arms, legs, fingers and toes; protruding or sunken chestbone; armspan greater than height; scolosis; nearsightedness; and flat feet. Every year many people with the Marfan syndrome and previously unrecognized aortic aneurysms require emergency surgery for acute dissection or sustain fatal rupture before surgery can be performed. Not infrequently such patients had skeletal or ocular changes diagnostic of the Marfan syndrome that were not recognized by the patients' physicians.1 "Ideally, people who are affected by the Marfan syndrome have their aorta monitored yearly to detect aortic enlargement, the precursor to aortic dissection, and take medications to slow the progression of enlargement. The problem is that tens of thousands of people in the U.S. who have the Marfan syndrome are not diagnosed. For them,an aortic dissection can happen at any time, without notice," said Richard Devereux, M.D., Professor of Medicine,Weill Cornell Medical College-New York Presbyterian Hospital. "It is incumbent upon the emergency physicians to consider aortic dissection in people who present in the emergency room with chest pain, especially if they exhibit the typical physical signs of the Marfan syndrome and other diagnostic possibilities cannot be confirmed."



The NMF's Emergency Medicine Campaign



Preventing these avoidable deaths is the objective of the NMF's Emergency Medicine Campaign, which was developed with the support of the family of Jonathan Larson. The goal is to educate emergency room personnel about the risk factors for aortic dissection and how to correctly recognize, diagnose and treat a dissection. In conjunction with the "ER" episode, the Foundation is launching a new continuing medical education (CME)video program about the emergency diagnosis and treatment of aortic dissection, accredited by Washington University school of Medicine in St. Louis. Accompanying the video are materials developed by the NMF in cooperation with the New York State Department of Health as part of the medical education initiative instituted following the State's investigation into the death of Larson. These include a booklet for physicians,a four-color poster for non-patient areas in the hospital emergency department and an educational advisory for pre-hospital providers (i.e., emergency medical technicians), which was devised by New York's State Emergency Medical Advisory Committee (SEMAC).



Recognizing and Treating Aortic Dissection



Although aortic dissection is uncommon, it is not rare. Based on available medical information, there are approximately 5,000-10,000 dissections per year in the U.S., but experts believe that the number may be underreported because dissections that do not result in death or cardiovascular surgery may be recorded under a different diagnosis, such as chest or abdominal pain. In addition, because so few autopsies are conducted, many deaths are attributed to "heart attack" or "sudden death" when the cause is actually an aortic dissection. An aortic dissection that doesn't stop tearing will ultimately become a fatal rupture. In fact, there is a fatality rate of more than 90 percent associated with acute aortic dissection originating near the heart without urgent surgical intervention by an experienced physician. The primary symptom of an aortic dissection is severe pain, usually in the chest, but occasionally in the abdomen when the tear begins in the lower part of the aorta. Other signs are pallor, pulselessness, parathesiae and paralysis. An imaging study of the aorta - a standard echocardiogram, magnetic resonance imaging (MRI), computed tomographic (CT) scan or transesophogeal echocardiogram - can confirm or disprove the diagnosis. A standard chest x-ray cannot be considered conclusive in identifying an aortic dissection. Upon diagnosis of a dissection, medications are prescribed to lower the blood pressure and slow the pulse. In a dissection that starts away from the heart, if the blood pressure stabilizes, the pain stops and there's no compromise of blood flow to the organs, then surgery can be avoided. However, symptomatic ascending aortic dissections or aneurysms do require emergency surgery. According to a study published in the New England Journal of Medicine, while elective aortic surgery has an operative mortality rate of 1.5 percent, emergency aortic repair has an operative mortality rate of 12 percent.2 Despite the increased risk during emergency surgery, lead investigator Vincent Gott, M.D., Johns Hopkins Hospital, emphasized the need for emergency room physicians to consider Marfan syndrome when diagnosing very tall patients who come to the hospital complaining of chest pains.



The Marfan Syndrome



The Marfan syndrome and related connective tissue disorders affect approximately 200,000 people in the U.S. The Marfan syndrome - which is named for the French pediatrician, Dr. Antoine Marfan, who first identified the disorder in 1896 - is inherited from an affected parent in 75 percent of cases. However, one-quarter of cases result from a spontaneous mutation at conception. Although the gene for the disorder has been found, there is no simple genetic test to make the diagnosis. A complete examination, including an echocardiogram of the heart by a cardiologist, measurement of body proportions by a geneticist or orthopedist and a slit lamp eye exam by an ophthalmologist, remains the most effective and reliable method for diagnosis. Once the Marfan syndrome is confirmed, medication can lessen the strain on the aorta and proper monitoring can ensure that surgery is done early to prevent a fatal aortic rupture. With an early diagnosis, proper treatment and a modified lifestyle, most people with the Marfan syndrome can hope to live a normal life span.



The National Marfan Foundation



The NMF was founded in 1981 to provide accurate and timely information about the disorder to patients, family members and physicians; to serve as a resource for medical information and patient support; and to support and foster research. For more information on the Marfan syndrome, contact the NMF at 800-8-MARFAN.



1 Gott, et al, N Engl J Med 1999;340:1307-13.
2 Gott, et al, N Engl J Med 1999;340:1307-13.