WASHINGTON, June 24, 2014 — Marfan syndrome is a genetic disorder that often results in long arms, legs and fingers, and in a tall and lanky body type. One in 5,000 people are affected, including men and women and people of every race and ethnic group. Isaiah Austin, the former Baylor center whose career path seemed to lead directly to the NBA, has been diagnosed with Marfan syndrome.
Austin was diagnosed this weekend after a standard EKG test revealed an abnormality. Marfan syndrome can produce enlargement of the aorta, the artery carrying blood from the heart to every other part of the body. Aortic enlargement in people with Marfan syndrome can be progressive, and it is the most lethal result of the disease.
After the EKG raises a warning flag, further genetic testing shows the markers for Marfan syndrome. The syndrome is usually inherited, though it arises as a spontaneous mutation in one-out-of-four people affected. The defect is in the FBN1 gene that produces fibrillin-1, a protein that links to other molecules of fibrillin-1 and other proteins to produce long, elastic strands called microfibrils, which allow skin, ligaments and blood vessels to stretch. They also provide support for muscles, nerves, and the lens of the eye. There are over a thousand different mutations to the FBN1 gene that can produce Marfan syndrome.
Antoine Marfan, a French pediatrician, first described the disease in 1896.
These elastic strands are found throughout the body, so the effects of Marfan syndrome can be diverse and interfere with the proper functioning of the entire musculoskeletal and cardiovascular systems. The severity differs from person to person. Some people live to a comfortable old age with Marfan syndrome; others, like athletes and others who engage in physically strenuous activities, can die suddenly from aortic failure.
Flo Hyman, the star of Daiei, was the best American woman volleyball player ever. She was competing over the winter in a top Japanese league when, on Friday, January 24, 1986, she sat down on the bench, slid to the floor, and was pronounced dead of a heart attack. An autopsy performed at the request of Hyman’s family showed that this strong, 6-foot-5-inch, 31-year-old athlete actually died from a ruptured aorta, caused by Marfan syndrome.
The obvious identifying features of Marfan syndrome include the extreme tallness and long limbs already described, but they also include deformities of the breastbone — in some cases protruded, or pigeon-breasted, and in other cases indented — nearsightedness, curved spine, crowded teeth, and flat feet.
While some have argued that Abraham Lincoln suffered from Marfan syndrome, physicians consider the diagnosis unlikely; Lincoln did not have a history of cardiovascular episodes or eye problems.
Hyman was nearsighted and wore glasses off the court. Lincoln’s long fingers and unusual height — he was 6’4″ — are what suggest to some that he suffered from the syndrome. It has also been suggested that the long fingers that helped account for Niccolò Paganini’s dexterity on the violin were the result of Marfan syndrome.
Unusual height, long fingers and nearsightedness do not mean you have Marfan syndrome — it affects only one person in 5,000, and there are many reasons a person may be tall — and there is no simple test — blood test, biopsy, or EKG, for example — for the syndrome.
Dr. Reed Pyeritz, director of the Medical Genetics Clinic at Johns Hopkins Medical Institutions in Baltimore, is an expert on Marfan syndrome. Pyeritz, an associate professor of medicine and pediatrics who treats 400 people for the syndrome every year, says “Often the first person to make the diagnosis of Marfan’s is the coroner.”
That was the case for Hyman.
Chris Patton, a 6’9″ sophomore who played at the University of Maryland in the mide-1970’s, had just finished his second season with the Terrapins when he died. Patton’s coach, Lefty Driesell, recalls what happened:
“The season was over, and the nets were up on some outdoor courts near the stadium. Chris lived nearby. It was a pickup game, and he went up for a dunk. They told me he was dead before he hit the ground.”
Then, as for Hyman, an autopsy showed that Marfan’s Syndrome caused Patton’s aorta to burst, even though no hint of illness had been detected before he died. Like Hyman, an Olympic-level athlete, he had gone through numerous vigorous physical examinations prior to his death
Treatments for Marfan syndrome usually include taking blood pressure medication in order to keep heart strain low. In some cases, heart, spine or eye surgery may be necessary.
“This is devastating news, but Isaiah has the best support system anyone could ask for, and he knows that all of Baylor Nation is behind him,” head coach Scott Drew said in a statement. “His health is the most important thing, and while it’s extremely sad that he won’t be able to play in the NBA, our hope is that he’ll return to Baylor to complete his degree and serve as a coach in our program.”