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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HER NATURE HIS NURTURE 
Marfan’s came to mind when I watched that first relay.
Genetic conditions are apparently often on my mind because my own child has Turner Syndrome and is an athlete. — I especially look at gymnasts.
I think he might have had symptoms, but people with Marfan syndrome usually have shortened torsos and what looks like a hunched back
I am Marfan and I have a long torso, as well as arms and legs, and there was no ‘hunching’ to my back (until after menopause and most of that can be blamed on a neck injury and arthritis). Be careful of the use of the word “usually” as this is true of everyone in my family who has Marfan.
that’s so bizzare. my cousin has marfan’s, and it looks a lot different than what i see here. she is very long and slender, but her chest bone protrudes much more, she had scoliosis, and her legs are super long (she is VERY short-waisted).
I have Marfans and so does my son. I am very sort at 5’4 1/2 and have a short torso but my arm span is 5’8 I have long arms and legs and my chest flares out another feature is a high pallot (roof of mouth) but my son is tall at 5 he is already 4 ft and he has a long torso. so it just goes to show you not always do we carry the features that they say we have,
Michael Phelps is, without a doubt, the face of his sport just like Tiger Woods, Michael Jordan, Wayne Gretzky, Muhammad Ali, Brett Favre, Roger Federer and Babe Ruth. However, for all that he accomplished in this years Olympic games, I still don’t think he ranks in the top 5 of all-time Olympians.
Here is my TOP 5 All-Time Olympians:
http://kowalkerjourney.com/2008/08/17/michael-phelps-greatest-olympian/
Learning that Michael Phelps may have a genetic condition – Marfan Syndrome – that predisposes him to swimming domination, I recalled what Pierre Lafontaine, the ceo of Swimming Canada, said when asked of Phelps in an interview with the Globe and Mail, “he has great genes.”
After watching the swimming phenom smash world records countless times over and win a remarkable eight gold medals at the Beijing Games, his “great genes” also got me thinking about “natural” advantages in sport.
The anti-doping efforts at the Beijing Games have been more extensive than ever so on the surface, the performance of the athletes is natural and fair. But because of recent advantages in both technology and science, they may be the most unfair games yet.
In the water cube, records are falling in nearly every race with the advent of Speedo’s Fastskin LZR Racer. Records too are being smashed on the track, no doubt designed to aid athletes in their quest for Olympic gold.
Doping in sport is nothing new, but it seems as athletes strive to be “swifter, higher, stronger” the line separating fair competition and cheating becomes all the more blurred, especially when you add technological or scientific advances to the mix.
A troublesome question arises when considering whether Phelps’ natural genetic advantage is unfair. Would it be reasonable for athletes to gene dope so they can acquire genetic characteristics that would predispose them to athletic greatness? Or to simply level the playing field putting them in the same competitive arena much like the LZR suit has for swimmers?
More questions come to mind,
Where do we draw the line when it comes to enhancing an athlete’s “natural” ability?
And,
After watching countless records fall in Beijing, do fans of sport really care how “natural” the games are?
Related links:
http://www.clevelandleader.com/node/6284
http://tierneylab.blogs.nytimes.com/2008/08/13/whats-natural-about-olympic-athletes/?scp=2&sq=genetics%20and%20olympics&st=cse
http://www.theglobeandmail.com/servlet/story/RTGAM.20080808.wolym-maki-phelps-08/BNStory/beijing2008
Could you possibly be implying that anyone would TRY to enhance something like Marfan Syndrome to create a better ATHLETE! We held our breath while my brother went through hours of open heart surgery in March and days of complicarions from the surgery. 80% of my family over 3 generations has Marfan and we are religious about annual echo-cardiograms. They keep us alive. More than one athlete has dropped from a dissected aorta. And it is, I think a very much UNdiagnosed disorder, so unless the sports world stops getting getting in a tizzy about 7′ plus basketball players etc. without insisting on the proper testing and diagnoses confirmations before sending these kids out to get hit in the chest on the court etc., more will drop. Why would anyone Want to take that risk? Or set anyone else up to do it?
Correction: I said MY top 5 All Time Olympians. I should have said HIS (the L.A. Times writers Philip Hersh’s) top 5. My bad.
@Cait I really liked your comment could have been a nice blogpost in itself.
“After watching countless records fall in Beijing, do fans of sport really care how “natural” the games are?”,
The follow-up question must be – are we going to care how “natural” things are in all aspects of life, not only in sports, in the (near) future ?
For those that are calling Phelps a “freak”, he’s no more of a freak than someone who has it in their family genes to be tall & so they’re great at basketball because they are over 7 feet tall.
He’s no more of a “freak” than someone who has it in their family genes to be muscular & so they’re great at football or weight lifting.
We all have good & bad elements inherited in our genes. It’s what you do with them that makes you into a world class athlete. . .
Thing is people with Marfan’s syndrome have extremely elongated limbs (both arms and legs) whereas Phelps has long arms yet short legs/long torso. In my opinion that makes him even more of a physical oddity since people with long arms tend to have long legs as well or vice versa. This basketball player probably looks likely to have Marfan’s:
*note his arms and legs are very elongated (7,3″ height but with an 8,1″ wingspan!)
Me and my son have marfans and he is 4 ft tall at the age of 5 and he has a long torso and long arms but his legs are not………. wish people would see that it has nothing to do with features really cause I typically do not look like someone who has marfans I have short torso and long limbs but I only stand 5’4 1/2 I do not have a long face and my eyes are not sunk in, I do have heart problems and I do have the fibrillin 1 gene
Aram- you make a good point.
I think it is also important to note that a clinical diagnosis of Marfan syndrome requires not only measurements of arms and legs. A complete Marfan evaluation includes detailed and specific examination of the eyes, heart, spine, skin and hips. Many of these other features of Marfan Syndrome cannot be seen by the naked eye. So even though someone may outwardly appear to have a marfan-like appearance, they may not meet criteria for a clinical diagnosis if specific features in these other parts of the body are absent.
As I pointed out above, the passage in Phelps’ autobiography talks about being evaluated for Marfan Syndrome, but does not say whether or not he was ever given a definitive diagnosis of the condition. I think that is very important to keep in mind.
The more interesting issue, in my opinion, was brought up by the anonymous commenter above:
“We all have good & bad elements inherited in our genes. It’s what you do with them that makes you into a world class athlete. . .”
Whether Michael Phelps has Marfan Syndrome or not, I think it is clear that he would not be the athlete he is today without will, determination and extremely hard work.
My son Liam bore an uncanny resemblence to Phelps. He was 6ft 10ins when he died age 22 while backpacking in Australia in August 2006. Liam had many of the physical features associated with marfan but, his condition went undiagnosed despite visits to doctors and consultants throughout his life. His immense height, pigeon chest, hyper flexible joints and flat feet were all investigated but, doctors failed to recognise marfan.
Liam particpated in sport throughout his life, football being his greatest passion. He swam and even had a go at Australian rules footy ‘down under’ not long before he felt ‘unwell’. Chest pain led to the diagnosis of an aortic dissection and a team of brilliant doctors operated and saved his life. We got to Oz in time to see him but, tragically he died of a seizure 24hrs after we arrived.
Marfan can and continues to go undiagnosed in young men and women.
I’m sorry for your loss, Alan. I was a competitive swimmer for **many** years and have ALL the Marfan’s signs include chest, face, armspan, etc. And yet no docter EVER said anything. Not even my father who is also a doctor.
In fact, when I complained of chest symptoms, the cardiologist tried to get me to go faster on the treadmill to see how high my heart rate would go! But she was adamant there was nothing wrong with me.
So I’m sorry to say that the medical community is ignorant — and often willfully so. They cannot make common sense observations. I was an excellent swimmer, and no doubt this genetic trait helped, but I quit swimming when I realized I had a problem. Maybe it saved my life, who knows?
I seriously doubt Phelps has Marfan’s. Like I mentioned he has long arms yet short legs whereas people with Marfan’s have BOTH long arms and LEGS. Additionally, if he had Marfan’s I doubt his heart could take the stress of his athletic career. This former NCAA basketball player, 7,3″ Shagari Alleyne, based on his physical features (i.e. disproprotionately long arms and legs, extremely elongated face, and etc) , more likely has MS than Phelps.
I did lots of sports growing up and never once had an issue with stress being put on my heart……. I have mitrial valve prolaps an enlarged aorta and and atrial septal defect oh and I have marfans.
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i have i case of marfans.. a lot like this i wouls say.. i think its awesome to see someone eles so much like my self doing so good. im a bodybuider/power lifter so im just happy that i didnt get it to a degree where i couldnt build muscle..
i think its an advantage in some cases, im ok with everything but the joint pain/ osteoarthritis it sucks but w/e, just pain… im getting my echo soon to make sure my hearts ok
He doesn’t look like he has Marfan’s to me. The features you mention are much more pronounced in Marfan’s cases. While his features are somewhat unique, he appears more properly proportioned than the Marfan’s men I’ve seen.
Just because he has doesn’t have ALL the features doesn’t mean he doesn’t have some form of the mutation. My brother has marfan’s. He’s very tall (6’5″) and skinny, has about a 6’10” wingspan, is extremely flexible, long fingers and toes, and the weird teeth. He however does not have the heart problems or the vision problems yet he has still been diagnosed (my nephew is also rather tall and lanky for a 2 month old so I think he may have acquired it too. Is there any way to tell in infants?).
What I wanna see, is YECs try to tell me that there are no such thing as beneficial mutations. Even if Phelps doesn’t have it, I’ve seen my big brother dominate people in basketball, volleyball and ultimate frisbee.
no way, his body is proportioned due to extreme workouts, its muscle bulk. marfans heart as said would not allow for such performance for one. his body is accentuated with his low riding pants.
I am a fifty three year old female and since a very early age knew that i was different, the things that i could do with my body was unbelivible and it used to turn family guts upside down, but i thought it was funny. I was always a fantastic swimmer and diver but i had to stop all that when my ears became perferated and my knee joints started to lock the pain was unbearable.
It was only in my mid twenties that i was finding it hard to breath and the cosultants found out that i had a leaking mitral valve.
They put this down to having scarlet fever at an early age so i went with their diognosis.
Now my son who is six foot four keeps having collapsed lungs is waiting to hear from the doctors if he has marfans , i know that he has, i have worked in nursing most of my life and i find the local G.P.s have little idea of this condition in fact my dentist seems more aware of it than they do. I know it seems silly but i am scared for my son because men do not listen and pass these things off as trivial but deep down i know he has this syndrome.
The good thing is i know that this is a condition that can be controlled but the bad thing is when are the local G.P.s going to recognise it and stop saying what a grand healthy child you have.
Thankyou all sue hadfield.
As a person with a medical family history of Marfans I have not been diagnosed because I do not want people telling me what I am capable of. My father had Marfan and did not have many of the physical symptoms. My search for this post was started becasue I was looking for athletes that have Marfan. I am so glad there are people out there doing great things with genetic mutations. Everybody has something that is different about them if we start singling them out and not allowing them to succeed that is terrible. How can the way God made you be used to rate your fairness when participating.
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My son who is 10 years old has recently been diagnosed with Marfans. I am a single mom of two children and our life has been kinda disturbed due to such news. My son, Joey, who has this diagnosis, loves baseball. He is tremendous at what he loves and now after four hard years has quit the potential to be an All Star. I just found this blog on the internet today. doctors say he should not play ball anymore how can this be if Phelps has this and is quit an athlete himself. Do you listen to the doctors or does the athlete enjoy and go along with the sport in which is his life?
Hi Laura, Thanks for your note and sharing your story. Please note I am not an MD, and I don’t have any specific insight into Michael Phelp’s medical history– this was written as simply an interest piece. I have to say that you 100% listen to the doctors with respect to your son’s health. You should certainly not change any of your son’s management based on what you read here.
I wanted to share this with you. Today we took Joey too see the cardiologist per his diagnosis of Marfans syndrome. We knew we were there so that the cardiologist could prescribe him medication that would hopefully slow down the growth of his aortic root. I prayed last night and asked the Lord to deliver good news and be with the cardiologist and my family through the visit. The cardiologist opened the visit by asking if Joey has any difficulties with wheezing. I explained that he did during cold months and when needed he would use a Nebulizer. With this information the doctor had to prescribe different medication. I was under the impression from the initial visit with the Genetics counselor that this medication was only available if Joey would participate in a research study. I wasn’t to fond off him participating in this study, I didn’t want him to be anyone’s test rat!! However the cardiologist wrote the prescription for this medication and we will be picking it up at Walgreens later tonight. The first medication that would of been prescribed to Joey would slow down his physical activity level if we were to allow him to continue with baseball. However the medication that ended up being prescribed to Joey does not have this side effect. I then questioned the cardiologist about Joey playing baseball. The words out of his mouth were like hearing Jesus for the very first time. He stated to let Joey continue to play baseball, make sure he takes his medication daily, and he is continued to be seen to keep a close watch on him.
Jesus is awsome !
Meh. Why did Jesus allow the Marfan’s in the first place?. And let’s give credit where credit is due. Doctors and medicine. I JUST had root replacement and as ending aorta replacement as well due to Marfan’s.
I thank the doctors for saving my life
Could Phelps’ features be consistent with pituitary gigantism? Large hands, large feet, large lower jaw, all could result. In theory injecting a prepupertal child with growth hormone could also produce the same features.
Yes. Look at identical twins where one has a pituitary GH tumor. Looks a lot like Phelps. http://group14.pbworks.com/w/page/16025094/PITUITARY%20GIGANTISM
Michael Phelps Nature versus Nurture debate, does he have Marfan’s Syndrome? Read his autobiography.
Posted by The Blodgetts on July 29, 2012 at 1:09pm
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Has anyone else been watching the coverage of the 2012 Summer Olympics and wondering why Michael Phelps does not champion the Marfan’s Syndrome cause… least mention it?
Michael Phelps wrote an autobiography and in it Marfan Syndrome is mentioned, pg 66 Michael Phelps Narture of Nuture? In the article attached click on the link to his book Beneath the Surface and he addresses the question there in his autobiography. I didn’t know about some features he has that are not as obvious to the lay person. it’s interesting to read as a person with Marfan’s in our family. Could he be concerned the DX might be considered an unfair advantage due to the way he is afflicted? In any case I am happy to hear John’s Hopkins is following up on his heart health.
More people would rather meet Michael Phelps than George Clooney. Most celebrities have a cause they relate to. I wonder if he realizes how many people with Marfan’s Syndrome could benefit from his support for NMF, if not now, then after the Olympics. He clearly knows about it which is more than most people.
What are your thoughts and knowledge on this ?
Karen 🙂
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Comment by The Blodgetts just now
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I was again reading articles about Phelps and suspicions he may have the early signs of Marfan's and realized he states his doctors felt because he it 6'4" tall and his wingspan is 6'7" that they should do an EKG to check his heart?????
My father had an EKG almost every year for years and he had an echo cardiogram a few years ago when the people in my family were being diagnosed and it turns out the EKG did not indicate anything, but he has abnormalities that I will leave to him that are significant and support his diagnosis of Marfans'.
I do not believe the doctors at John's Hopkins would think an EKG would tell them what they needed to see for a check up on Michael's heart. I hope he is getting the care he may need, even if the press is incorrect or he does not want to share his medical status.
I do wish he would acknowledge if he does have Marfan's or not and either way he has the opportunity to make a difference and save more lives than we could imagine, as well as further scientific research to save the younger generation. My children are 10 and 11. Teh medical community has only in recent years tried a medication on children that we will not know the true results for years.
For Michael:
Please Michael, stand up and make a difference that is bigger than the Olympics 🙂 Your contribution to the Olympics and swimming is great and historical. You do deserve to revel in your accomplishment.
Now what? I hope you decide to become a historical figure, that in my humble opinion, is even greater by saving lives. I lost two cousins who could still be here if the medical community were much more aware, they were 34 and 37. That is the possible reality of a significantly shortened life span for many who like Flo Hyman were discovered too late. I doubt Michael you know the details of the syndrome as it is still relatively unknown and misunderstood. I would bet the National Marfan Foundation medical community would stand behind you and give you all the information the public needs to hear but does not hear because they do not have your fame.
Sincerely,
Karen Blodgett
Comment by The Blodgetts 15 hours ago
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I was thinking the same things. Anyone else? I also wonder if it would be fair to disqualify him based on a diagnosis because there must be other physical characteristics that benefit many athletes in various ways so I would not think it fair to disqualify him if he were positively diagnosed. We all have something and usually there's pluses and minuses, if you look hard enough. I am sure some people would argue that but I have reasons for saying it. I have seen a lot of disabilities in my career people fail to see the positives I have. Luckily the people I am speaking of are not really aware of how much they impact others lives in a positive way and they wake up most days with a smile on their face. I do not blame anyone who is mourning a loss for not feeling the same. I respect the quote form Mary E. "Wherever you go there you are. My best to you all. I hope you are finding a way to enjoy the summer 🙂
Comment by Christina Marie White on Monday
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I've wondered about this myself and have read a few articles but don't have any more information than you. We know he knows about Marfans. So I figure it could be one of two things. Either they have tested him and it came back negative but are still monitoring him based on his physical characteristics or he has deliberately chosen not to do genetic testing because he doesn't want it to be confirmed. I would think that if they knew conclusively he has it that he would not be allowed to participate in the olympics. For his health and safety not because of an unfair advantage. I think anyone who has a genetic disorder should be allowed to use their talents the best they can. My cynical side thinks its the second choice and I keep waiting to hear bad news. I hope I'm wrong. I do wish that he would use his status to spread awareness, even if it's confirmed he doesn't have it, but I understand why he wouldn't want to.
pretty sure he wouldn’t be alive he had marfan’s, his aorta would not be able to handle his level of activity, let alone moderate activity. i can’t believe people publish stuff like this on the internet.
Rachel,
The purpose of this post is to highlight some of the physical features associated with Marfan Syndrome in an effort to raise awareness about this often unrecognized condition. As I mention several times, I am not saying that Michael Phelps has a diagnosis of Marfan Syndrome, but rather that he shares some outward physical characteristics associated with this condition. Certainly, the aortic root dilation associated with Marfan Syndrome is an extremely serious and life-threatening health concern, and not one to be ignored. I agree that it would be rare for an individual with Marfan Syndrome to be given medical clearance to compete at such a high level. However, if you read the post, you’ll notice that Phelps’ points out in his memoir that his heart is regularly monitored, and in ‘good shape.’ This doesn’t prove or disprove that he does/does not have Marfan Syndrome – again just that his physicians were concerned enough to monitor for signs and symptoms.
Allie
I am 63 years old and I have marfan’s syndrome. It was only diagnosed about 7 or 8 years ago after the tearing of the tendon in my had after about the third surgery my doctor asked if I had been diagnosed with Marfan’s Syndrome no I had not been
diagagnosed but I do indeed have it. When I read the symptoms that come with the syndrome it was as if they were reading my medical history..I guess at my age you just learn to accept things it dosent mean I like it…I have been wanting to start a blog about Marfan’s and also about the chronic pain it leaves some of us with but Im not sure how to do it. Don’t mean to bum people out but I hate this disease and it is a big big pill to swallow..Im really not a negative person I guess this is just a bad day
When I knew I probably had Marfan I was quite frightened. (I show many of the common symptoms) It’s better now and I think the consolation to know Phelps had Marfan had its part in it.
I’m an amateur swimmer and I have always felt the advantages of this condition- the long arms, the flexible joints, the large palm, and maybe the slim body. This made me receive the “news” with a kind of enlightenment. What’s more, Phelps was the first person I knew had Marfan. OK, it is just a probability, but I take it as a fact 🙂
And a few more thoughts relating the blogpost:
-MFS is extremely difficult to diagnose genetically. And it is almost impossible when it appears as a first mutation due to the lack of family history.
-I don’t think that it is possible to discern between genetic and non-genetic advantages. A talent in sport always has its genetic roots.
Just on the brink of a possible confirmation from medical experts that my son may have Marfan’s syndrome and am deeply appreciative of all the commentary above. However, I have not read anything, from anyone, that offers concrete advice on positively navigating into the world with a Marfan’s limitations, or in Phelps case, advantages. In particular, how does one deal with the joint pain? Can’t even bring myself to think about the heart issues at this point – dearly hoping my boy has the ‘mild’ version of this affliction.
Hi, in any case you shouldn’t worry too much. The name and the symptoms may sound terrifying but if your son DOES have Marfan at all and even he has it in its “more serious form”, you should know that the serious issues can still be dealt with by preventive measures. I probably have Marfan, and I was frightened to hell, too, at first.. later the doc made me understand that it was not such a big deal.
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Michael Phelps do not have a small jaw.
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I like Phelps have long arms short legs(for my height) just been diagnosed with Marfan’s and this article is encouraging because if Phelps has the condition and was aware of it and continued to train and compete with regular scans and tests then it means people like me can do the same. All be it at a much lower level.
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thank you for this post. Ive been woried about my sons sternum .and dr.s have yet to give me a name. So….. Ill be GIVING them the names PECTUS CARINATUM (which 100%, with out a doubt is my son’s chest)& MARFAN SYNDROME (just in case) so these clueless doctors have a place to start. Fingers crossed i get answers. Again THANK YOU.
Michael Phelps appears to have been using high dose Growth Hormone from a young age. Look at identical twins where one has a pituitary GH tumor. Looks a lot like Phelps. http://group14.pbworks.com/w/page/16025094/PITUITARY%20GIGANTISM
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