(Republished with permission from the St. Louis Post-Dispatch. This article originally ran in the Health section on Wednesday, Sept. 17, 2009)
By Gail Appleson
St. Louis Post-Dispatch
The night before the 1996 debut of the Pulitzer-prize winning play “Rent,” its author Jonathan Larson went to two New York emergency rooms complaining of excruciating chest pain.
Both sent him home saying Larson had the flu or food poisoning. Later that evening he died at his apartment. It was 10 days before his 36th birthday.
Larson, a tall, lanky man with long fingers and toes, had Marfan syndrome, a genetic disorder of the connective tissue that weakens many organ systems, including the heart, skeleton, lungs and eyes. Some experts believe Abraham Lincoln may have had Marfan syndrome.
In Larson’s case, the disorder led to a fatal aortic dissection, a tear in the main blood vessel that carries blood away from the heart. Another example is Flo Hyman, an Olympic volleyball star, who died of aortic dissection from unrecognized Marfan syndrome in 1986.
Although Marfan syndrome is almost as common as cystic fibrosis or muscular dystrophy, doctors sometimes miss its signature traits that include unusual height, long, spindly arms, legs and fingers, a sunken chest and loose jointedness.
If doctors had recognized those features in Larson, they would have seen the need for further testing and heart surgery that could have saved the author’s life.
A group of Washington University School of Medicine doctors is among those at the forefront of publicizing this disease, establishing the Marfan Clinic at Washington University and Barnes-Jewish Hospital.
“It’s become the largest multidisciplinary clinic in the Midwest for Marfans and other related syndromes,” said its director Dr. Alan Braverman, a cardiologist and professor of medicine whose father had died from the disease at 46. Braverman doesn’t have the syndrome, but his brother and nephew do. Cardiac problems are the leading cause of death in Marfans patients.
“The most difficult thing about diagnosing Marfans is that the outward features can be so variable and in some instances, subtle, so that they are not always recognizable,” Braverman said.
When patients come to the clinic they are examined for heart, eye, lung and skeletal problems and they and their family members receive a genetic evaluation.
The clinicians also look for related health problems and diseases, among them is Loeys-Dietz syndrome, a dangerous genetic disorder of connective tissue that was identified as recently as 2005. Because LDS was found so recently, not all doctors know about it or how to tell if a person has LDS or another connective tissue disorder. Patients with Loeys-Dietz often have widely spaced eyes, and cleft palate or split uvula, the flap of skin that hangs down in the back of the throat, and twisted, tortuous blood vessels.
These patients require very close monitoring and surgery on the aorta when it enlarges to prevent a fatal rupture.
Braverman also evaluates patients who have had an unexplained tear in their aorta or aneurysm in the thoracic aorta.
“It is also important to remember that up to 20 percent of people with an aneurysm or dissection in the thoracic aorta have a relative with a similar condition,” Braverman said. “There are new genetic tests that can be performed on families with unexplained thoracic aortic aneurysms. Many times, unsuspecting family members are at risk for the same condition.”
For more information, contact the Marfan clinic at 314-362-1291 or visit the
National Marfan Foundation site at www.marfan.org.
Copyright 2009 St. Louis Post-Dispatch, Inc.