Rare Disease Report

Does Michael Phelps Have Marfan Syndrome?

AUGUST 10, 2016
James Radke and Andrew Black

While at the 2016 Olympics in Rio, Michael Phelps is reminding America why he is one of the best athletes out there. The world's most successful Olympian won a 3rd gold medal in Rio today; bringing his total to a record  21 gold medals.

What sets Michael apart from other swimmers is his physical traits. He is extremely tall with a thin physique, a protruding chin and disproportionately long arms. Great attributes to be an Olympic swimmer.

These physical attributes are also associated with the rare disease, Marfan syndrome. 

Marfan Syndrome

Marfan syndrome is a hereditary disorder caused by a mutation in the gene that controls fibrillin-1. The mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body,
Common symptoms associated with Marfan include:
Tall and slender build
Disproportionately long arms, legs and fingers
A breastbone that protrudes outward or dips inward
A high, arched palate and crowded teeth
Heart murmurs
Extreme nearsightedness
An abnormally curved spine
Flat feet

Does Michael Phelps have Marfan syndrome?

Some, but not all of these symptoms, seem to be applicable to Michael Phelps. So does he have Marfan syndrome?
It seems Michael is aware that he may or may have it and of biggest concern is that marfan can lead to cardiovascular problems. In his book, "Michael Phelps: Beneath the Surface", Michael wrote about the rare condition. Below is an excerpt from the book:
"My heart rate was accelerating and Bob suggested I see the doctor. Because I was very flexible and had long hands and feet. I had some early symptoms of Marfan Syndrome, a disease that affects connective tissues and can be fatal if there is leakage to the vessels that lead to the heart. If you reach out your arms and form a T and your wingspan is longer than your height, you can be at risk. In my case, those measurements have always been very close. I didn't know at the time why the doctor decided to look into this. My mom and Bob didn't want me to freak out, so they told me it was simply a good idea for young athletes to have an EKG test in order to look at the heart.
Fortunately everything was, and still is, okay. I have been tested once a year ever since at John's Hopkins under the direction of Dr. Peter Roe and the tissues are strong, the aortic rout is clear and my heart is in good shape - as long as my Baltimore Ravens are winning."
Based on the limited data available, it would seem that Michael does not have Marfan syndrome but he may be on ‘the spectrum’ for lack of a better phrase. And since Marfan syndrome does increase the risk of a person developing aneurysms, Michael is playing it smart by getting regular checkups with his cardiologist. 

For more coverage of the Olympics and Paralympics, visit http://www.raredr.com/conferences/paralympic-and-olympic-games 

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