Michael Phelps and Marfan Syndrome?

His body has been described as a “freak of nature” and “transhuman.” The BBC has a comprehensive break-down on why it’s perfect for swimming. But as I watched 23-year-old US Olympian Michael Phelps win his 7th gold last night, I couldn’t help but think “Marfan Syndrome.”

Marfan Syndrome is a rare genetic condition that affects the connective tissue in the the body. Some of the more obvious physical features seen in Phelps include:

– Wing span much greater than height

– Long and slender fingers/toes

– Protruding sternum (pectus carinatum)

– Hyperflexibility of joints

– Long narrow face

– Small jaw

– Overcrowding of teeth

Unfortunately, Marfan Syndrome is also associated with a high risk for a fatal heart condition in which the major vessel leading from the heart can tear.

A quick google search made it clear that I am far from the first person to have linked the swimmer with this condition. Phelps himself writes about being evaluated for Marfan Syndrome in his autobiography Beneath the Surface:

I could feel something wrong one day when I dove into the water at practice. My heart 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. (Page 66)

In his book, Phelps goes on to say that he is regularly monitored and his heart is in good shape. It is not clear from his recount whether he has been given a definitive diagnosis of the condition, and out of personal curiosity I wonder whether he has had genetic testing. But if in fact he does have Marfan Syndrome, we can expect a 50% chance that little Michael Phelps offspring will share their father’s unique physique and potential for swimming prowess.

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Post Script: Phelps’ possible genetic advantage is generating some interesting ethical discussions in the blogosphere

UPDATE MAY 17 2012

This blog post was originally written in 2008, and has received a high number of views over the past few years. Although already outlined below, I’d like to highlight that this post was written from a purely observational perspective, and is not based on any information or inside knowledge beyond what is available publicly. A diagnosis of Marfan Syndrome is based on a number of factors, some of which are externally visible, and some of which are not. Therefore not every person who shows features of Marfan Syndrome will have a diagnosis. This post is purely meant to highlight some of the features of Marfan Syndrome and raise awareness about the condition.

I would also like to make it clear that no information provided on this blog post should be construed as medical advice, nor should it be used for the purpose of medical management. If you have questions about Marfan syndrome and your own health or the health of a loved one, please speak with your physician directly. Thanks for visiting!

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