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April 28, 1999

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Early Heart Repair For Marfan Syndrome Patients Critical To Survival

--Risk of Death Eight Times as High When Aneurysms Require Emergency Surgery

People with Marfan syndrome should be carefully monitored for development of an aortic aneurysm -- a ballooning of the large blood vessel that leads away from the heart -- and should be treated early, according to a large, international study led by physicians at Johns Hopkins. The risk of death for these patients is eight times higher when they wait until they require emergency surgery for the aneurysms.

Results of the study, the largest to look at Marfan syndrome, were published in the April 29 issue of The New England Journal of Medicine. They showed that death rates from surgical repair of the aneurysm were only 1.5 percent when done early, compared to 12 percent among patients who underwent emergency repair.

Marfan syndrome and related connective tissue disorders affect some 200,000 people in the United States. Marfan syndrome is a disorder of the connective tissue that normally makes blood vessels and other organs strong and elastic. Usually inherited, it affects the skeleton, eyes, heart and blood vessels and is often characterized by excessive height and abnormally long and slender fingers and toes.

In Marfan patients, the aorta, or main blood vessel, is weakened and prone to enlargement. Without proper monitoring and medications to reduce the stress on the aorta, it could tear, resulting in sudden death. However, with an early diagnosis, proper treatment and a modified lifestyle, most patients with the disorder can live a normal life span. Aneurysms are treated by surgery, during which the diseased portion of the aorta is replaced, usually with a Dacron fabric tube containing a mechanical valve.

Surgery to repair an aortic aneurysm is no longer a high-risk procedure when done early, says lead author Vincent L. Gott, M.D., professor of surgery at Hopkins. Results are similar to those from bypass operations, he says.

"The frightening thing for Marfan syndrome patients is that often the aneurysm has no symptoms until it becomes life-threatening, at which point they have terrible chest pain," Gott says. "Even worse, aneurysms frequently are not seen on chest X-rays. Physicians need to pay close attention to their patients and check for aneurysms by an echocardiogram, a diagnostic test using sound waves. Emergency room physicians should consider Marfan syndrome when diagnosing tall patients who come to the hospital complaining of chest pains."

Marfan syndrome made headlines in 1996 when Rent playwright Jonathan Larson was misdiagnosed after going to two New York City emergency rooms complaining of chest pain. He subsequently died from a ruptured aortic aneurysm resulting from a Marfan-like disorder. Other sufferers include the late U.S. volleyball standout Flo Hyman and former University of Maryland basketball star Chris Patton.

For the study, researchers examined the records of 675 Marfan syndrome patients who underwent replacement of the aortic root at 10 surgical centers -- seven in North America and three in Europe -- between October 1968 and March 1996. The patients ranged in age from 4 to 73; 70 percent were male. The average size of the aneurysm in this group was 6.5 centimeters, or about two inches.

Among 455 patients who underwent elective surgery to repair an aneurysm, the death rate was 1.5 percent (seven patients). By contrast, the mortality rate was 2.6 percent among the 117 patients who underwent urgent repair (within seven days after surgical consultation) and 12 percent among the 103 patients who underwent emergency repair (within 24 hours after surgical consultation).

While all patients had a high risk of death for approximately 60 days following surgery, 93 percent of patients were still alive a year later, and 59 percent were still alive 20 years later.

"The outlook for patients with Marfan syndrome has improved dramatically in the past 25 years," Gott says. "Patients and their families should understand that cardiovascular complications can be managed effectively in most cases by aggressive, preventive medical treatment or surgery."

The study was supported in part by the Dana and Albert "Cubby" Broccoli Center for Aortic Diseases at Johns Hopkins, the National Institutes of Health and the National Marfan Foundation.

The other centers involved in the study were Stanford University Medical Center, Stanford, Calif.; Hannover University Hospital, Hannover, Germany; H˘pital La Pitie, Paris; Texas Heart Institute, Houston; Methodist Hospital, Houston; Toronto Hospital, Canada; Mt. Sinai Hospital, New York; Jewish Hospital, St. Louis; and University Hospital, Zurich, Switzerland.

Relevant Web sites:
Johns Hopkins Cardiac Surgery-- http://www.med.jhu.edu/csurg/index.htm<BR> National Marfan Foundation-- http://www.marfan.org
Glory's Marfan Syndrome Information Site-- http://www.geocities.com/~glorymorr/marfan.html

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