What is Marfan Syndrome?
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Marfan Syndrome (‘síndrome de Marfan‘ in Spanish) is a disorder of the connective tissue. It is generally hereditary in nature. As you know, the connective tissues are the fibres that provide a frame to the body. It supports the body and gives it shape. When a person suffers from this disease, the body shape becomes somewhat abnormal. It can affect various body organs like the eyes, heart, skeleton and blood vessels. There is no specific cure for this condition. In some cases, it may even be life-threatening.
History of Marfan Syndrome
The disease first got its name in 1896. A French pediatrician named Antoine Marfan saw the symptoms of this disorder in a five year old girl. He was the first physiological expert to bring this health condition to light. The condition has been named after him.
Marfan Syndrome Symptoms
This particular disease has some unique symptoms. In most cases, these can be found out from a person’s physical features. Here are some of the well known Marfan Syndrome symptoms.
Length of body Parts
Generally, people suffering from this disorder are exceptionally tall. Even those who are not very tall are taller than average people. This is because the condition impacts the skeletal system of the affected persons. People suffering from this disorder also have long limbs. The arms, fingers, legs, toes and the face are long and thin. In medical terms, this disorder is called ‘Dolichostenomelia’.
Picture 1 : Elongated Finger and Arm Bones
Source : drmarzuki
Skeletal Abnormalities
Patients of this syndrome often suffer from skeletal curvature. In many cases, the person has a curved spine. The roof of the mouth is arched. This brings the teeth closer lending a disproportionate appearance to the face. In some people, the ‘sternum’ or breastbone is bulges outward.
Picture 2 : Skeletal Abnormality in Marfan Syndrome
Source : emedicine.medscape
Eyes
The disorder also affects the eyes. A person with this disease can have one or both his eye lenses located wrongly. The lens may be shifted to a side or located a little higher or lower. The dislocation may be a slight one or it may be more pronounced. This may also have an effect on the sight of the sufferer. The person may be myopic or short-sighted. He or she may also have glaucoma from an early stage of life. There can also be cataract problems resulting in unclear vision.
Skin
A person who has this disease may suffer from skin problems. In many cases, the patient has stretch marks on his or her body. A recent weight change can produce stretch marks in your skin. But stretch marks in Marfan Syndrome sufferers can be found even in the absence of a weight alteration.
Picture 3 : Stretch Marks (One of the symptoms of marfans syndrome)
Source : emedicine.medscape
Intestines
Sufferers of this disorder often have a hernia in their abdomen. It is known as ‘Inguinal hernia’. In such cases, a bulge develops inside the abdomen that contains some intestine parts.
Heart
Heart problems are crucial in sufferers of this disorder. The defective connective tissue actually affects the walls of the aorta. The aorta transports blood to the heart from the other body parts. In Marfan persons, the aorta walls are weak. This often leads to ‘aortic dilation’, a condition where the walls of the aorta stretch abnormally. It may lead to the sudden tearing of the aorta or other serious heart problems causing even death.
Lungs
In Marfan sufferers, the tiny air sacs in their lungs become less flexible. In some cases, the sacs also swell. If not treated in time, this can cause serious life risk.
What causes Marfan Syndrome?
Since the disease was first diagnosed, scientists and researchers have spent hours on it. They have tried hard to discover what are the real causes of Marfan Syndrome. It is now believed that heredity is the prime reason behind the appearance of this condition in a person. The child of a Marfan sufferer has a fifty percent chance of inheriting the disease. The disease may also happen because of a gene abnormality occurring during the formation of the sperms. This can lead to a child developing Marfan Syndrome even without any parent suffering from it.
Marfan Syndrome Treatment and Diagnosis
Marfan Syndrome has no specific cure. Naturally, there are no laboratory tests to discover the presence of the disorder. Generally, a diagnosis of Marfan Syndrome is done by:
Picture 4 : The ‘Thumb and Wrist Sign’ in Marfan Syndrome
Source : gfmer
- Collecting records of the presence of the disease in any parent, family member or ancestor of the patient.
- Physical check-up that mainly focuses on the analysis of the skeletal structure of the sufferer.
- Eye tests, to detect any abnormality in the eye lens or vision of the affected person.
- Heart tests that check the cardiovascular condition of the person. These examinations are carried out to detect the rhythm of heart-beat as well as the size and shape of the aorta. The echocardiogram test is a must for Marfan Syndrome sufferers.
Marfan Syndrome Life Expectancy
Marfan Syndrome is generally not life-threatening. Even in the case of serious abnormalities, timely check-up and proper medication can keep the affected person in good health and lead a normal life. Famous persons like Austin Carlile, Sir John Tavener and Flo Hyman are known to have this condition. But you can see that the disorder has not stood in their way of reaching to the top. Marfan Syndrome is not the end of life. You can lead a happy life even with this disorder.
Marfan Syndrome is an abnormality with bones…
will the irregular heartbeat life threatening?
Susan, Marfans is not an abnormality with the bones, did you not read any of this? I have Marfans and the only bone problem I have is my chest plate slightly protrudes , I also have very long fingers and arched pallet, these are not bone abnormalities, the real problem is with your heart, eyes and lungs. My lungs have collapsed more times then I care to remember and a lung cafeter normally puts that right, I have had 2 cornea graphs so I can see better and my heart is checked via ECG every year. Dennis if you have Marfans please make sure you get this done as they will notice a problem and can mend it, if you don’t get this checked you run a very high risk of heart attack.
Thanks for an informative read although I would say the living a normal healthy life is wrong, as the oldest current sufferer of Marfans syndrome is 56 so I don’t think that’s a normal life, but its better then some get, so I guess I’ll count my blessings.
If anyone reading this thinks they may have it please get it checked out as it will not go away just because you ignore it.
Dear Glen, thanks for your information.
How old are you now? and since when you started suffering from heart and lungs problems? Thanks
My dad died from Marfan syndrom and i’m one of the lucky few who did not get it past down to me… every since now I never understood it correcty seeing as I’m only 14. I alwas new my dad was suffering from something but i never really new what it was, he only died 6 years ago at the age of 45. And aall i remeber was that he was extreamly tall with long limbs, feet and hands/fingers, with an arched back. His mum and brother both died from marfan way befor I was even born… I’m happy I now actually learnt what it was and I really hope they find away to at least cure the inside parts of the body. I’m worried that when I have children that they have a chance of getting it too…
I have mild marfan. wanted to buy insurance policy, the the insurance company will not want to pick up my case
Hi Dennis, what do you mean by mild marfan? how old are you? and what are the sympotomes you are suffering from exactly?
Hi Dennis, why the insurance company refused to accept your case?
Robin: My 2 sons and I have marfans. My understanding is that you cannot carry the gene and pass it on to your children unless you have marfan’s. I was told my sons children each will have a 50% chance of having it while my daughter’s children will have the same odds as the general public.. one in 10,000.
Glen, Where did you get the info that 56 is the oldest living sufferer? I’ve not heard this before.
I have Marfan syndrome. This article says you can lead a normal life. There is nothing normal once you start having problems. It affects each person to different degrees.
My mother died when I was 9 she was only 35.
She had an aneurism in her aorta. There were no surgeries in 1961.
There is no one besides me in the family that has it. My children don’t have it. It the luck of the draw so to speak on the gene that causes it. I’m 58 years old so the info of 56 being the oldest I don’t know where it came from.
I have had surgery on both eyes having my lenses removed so I could see.
I have had 3 open heart surgeries due to aneurisms. Most people don’t get to surgery. Their aorta just bursts and they die or they die during surgery. If you have to get your heart valve replaced you have to take Coumadin which thins your blood so you don’t get a blood clot. Dealing with the regulation of the Coumadin is no picnic. You have to be very carful about infection with an artificial heart valve. If you have one always get an antibiotic before you go to a dentist to get any kind of work done in your mouth that could possibly get infection into your blood stream. They will say you don’t need it anymore but if you want to save your life insist on getting an antibiotic. Better safe than risk infection that can get into the artificial valve.
I have just found out that I have another aneurism. This time it is in the patch they used on a previous surgery.
I have a good surgeon so I hope I can make it through another surgery for my children and grandchildren sake.
I suggest if you suspect at all that you have Marfan Syndrome you find a good Cardiologist. If he doesn’t suggest you get an echo cardiogram every year and give you medicine to keep your blood pressure low find someone else. Don’t lift heavy things, don’t play in strenuious sports. Stress is your enemy it makes your blood pressure go up. Eat right. Walking is good too. I hope this helps someone.
Hello everyone, My DD is 12 yrs old and I noticed her chest bone had some issues (Sunken in) HAd an x ray done two years ago and said everything was normal. I brought her in again this past month and now they are saying it is Pectus Excaratum. she is going for an xray. She seems fine, no breathing lung issues, HEr biggest complaint is back pain. She is very energetic and plays hockey fulltime. How would I go about finding out if she has Marfan Syndrome??? As I read (Which I should not do) more stuff on the internet and I think I need to push a little more and make sure she does or does not have this …Thanks
thanks a lot dee sir and others for your valuable information.i am 19 years old.i never thought this as a severe problem.from now onwards i will take care.
our doctor thinks my husband has this and he is getting tested his lungs have collapsed many times he had surgery on one to help stop it from collapsing. my husband is really tall and skinny he is only 24years old i worry about our 4year old son if my husband has this what done i need to do to make sure that he is with me for a long time and what should i like for on my son to know if he has this. thanks
It is definitely possible to live a normal life with Marfans… depending on the severity of it in your own personal case. This disorder runs in my husbands family and everyone that died (that had Marfan’s) lived into their 70’s and 80’s… that’s a normal life span. My husband and 2 of our children have it. Our oldest daughter (20 years old) only has it mildly, with the eye problems (that have been surgically corrected) and some curvature in her lower back. When I took her to see the genetics specialist, he even said that he was pretty sure she did NOT have it due to her lack of “signs” but sure enough, her test came back positive. My son (18 yrs. old) has a lot of the “signs” although not severe… he looks like a normal teen unless you are aware of physical abnormalities with Marfans… then you can spot them. Sadly, he already has an aneurysm so that is something we are watching carefully.
I mainly wanted to share a great website that I came across a couple years ago that has TONS of information on it about many connective tissue disorders, similar to Marfan’s. I have my kids and husband on supplements, especially the COPPER. I am hoping to help shrink my son’s aneurysm. I even talked to a Chinese doctor about this and she said it is possible to shrink and aneurysm!! I hope that all of you that do have this condition with research, research and research some more… because it’s your life and you have to take control of it yourself. Doctors are not going to chase you down making sure you are taking care of yourself. There are many supplements that you can take to lower your blood pressure, exercises you can do to help with back problems, etc. This website will get you started and I bet help you feel less alone in your situation. http://www.ctds.info/index.html If you can’t click the link just search for Sandy Simmon’s Connective Tissue Disorder Site. That should bring it up. Good luck to you all. 🙂
it seems that alot of people that have or may have marfan syndrome are very uneducated on the issues connected to marfan syndrome. my daughter was born june 12 2007 and was diagnosed at 3 days old. my family has no history of marfans and nither does my wife family. we both have been genetic tested and we dont carry anything. my daughters condition is completely a spontanious mutation of the geenes. we seen all the experts in 5 different states and they all told us that her condition was the most advanced anyone had seen. she had every symptome possible connected with marfan syndrome 73 degree angle in her spine, long fingers toes legs and arms, long face, absolutly no legiment function in her whole body, heart valve issues, aortic root issues, complete lens displacement, and lung issues that eventually led to her death at 2 1/2 in november of 2009. so people that suspect that they have it definetly need to go see a genetic specialist. most family doctors only know what they read off the internet it seems. i recommend university of michigan the genetic specialists are awesome there.
We just found out through my sons physical that he should be tested for this. I knew his height was not normal. He is 12 and 6ft tall. For about 3 yrs he has been playing basketball so you can see the devistation my son had when he was told that if he has this disease he cannot play basketball anymore. We will be going to see the cardiologist next week and see what he says. The genetics Dr says that he possible does have it but we still need to take the DNA test for it. I had no idea that this existed. My husbands family are all tall so we just assumed that my son got their height. He is so very athletic and competitive and am afraid if he is diagnosed that this will shatter his dreams. I feel so sad for him.
I am 41 and I have marfans. my mom is 78 and has it. my grandfather died at age 80 and he had it. lots of ppl last long. my brother died at age 40. That was 2 years ago. He didn’t take care of himself. Always partying and drinking and smoking. See you really have to eat good. The doctor tells me that I don’t have full blown
marfans cause I dont have the flat feet or caved in chest or the very skinny long fingers. I am tall and skinny and I did get a mitral valve replacement in my early 30’s. My mom has all the features and she never had problems until she was 70. I guess every person is different.
am 13 yrs old , and every since i was little i had Marfan Syndrome and i would never have abnormality bones anyting yal just said i would have abnormal hearts rates like from one min it could be 60 then another second it would be 110 . it passes on generation like on my dads side he got it from his grandfather and my dad give it to me , i have been in and out of the hostpital since i was born and i got med. for it called NADOLOL . but i am kinda tall but , i just wanted to let yal know there all different types of Marfan Syndrome. THANKS.
The paragraph on Marfan Life Expectancy is offensive and should be pulled. First of all, the example of Flo Hyman living a normal life when she died at age 31 from an aortic dissection is horrendous. I suffer from Marfan and I cannot work, go on field trips with my 7 year old or exercise except for swimming. I deal with daily pain due to all the back, hip, ankle and foot problems I have. I am blessed that I have not had to have my aortic valve replaced yet but it’s only a matter of time. If you want to be a reputable source for health information, you need to revise that paragraph as it will give people a false sense of security.
but i am double joinit
im extreamly suspisious of having this.. id rather die doing something crazy then to die early from this bull. 1 in 5000 and its me; im gunna go jump out airplanes n shit
iam very suprised about this type of syndrome is there any way to cure tis?
my sister also have this syndrome and has only 6 years.
im 19 and had a hole in my lung twice. first time i didnt tell anyone and felt fine the next day. second time went to the doctor and they thought it was my heart but later they found the hole. it healed on its own but the doctor did say i might have this. those are the only problems ive been having although some mild pain in my leg and back sometimes. but if i do have it it has not caused me to lead my life any different than any other people
well I know from experience from mother to brother to grandfather to my niece that has it now. she has severe marfans and she’s doing great. I know a few other ppl that have it and they’re in their 70s so don’t tell me what I know. my niece is 6th tall with marfans and she has murmur. as long as she goes to her dr she will do good. If u have negative thoughts thats ur problem. like I said my mom
is 78 my grandfather was 80 my brother was 40, but he did all the wrong things. if u look how u have to change the way u live. so I have hope and so does my niece. it’s called changing ur life for the better.
Hi Maria, I am very interested in your family history and wonder if you could answer some questions that might help with mine. My son is waiting for an echocardiogram for suspected Marfans. He has a lot of classic signs, but not severe (he’s 14 and quite athletic). My question is, can it be so mild that there are very few symptoms but still be passed down? My dad has pectus excavatum, bendy thumbs, has had a hernia and recently had a life-threatening blood infection, but has otherwise been very healthy (he just turned ninety, and is quite short). I also have pectus excavatum and bendy thumbs, but have never had any health issues (I’m quite short too, and 39). My son does not have pectus excavatum or bendy thumbs, but has very flat feet, long arms, scoliosis and kyphosis, a heart murmur, and very loose ligaments (his collar bone just dislocated for no reason). In researching this I just learned that a niece also has some connective tissue disease (she didn’t say what it was), and a nephew has a heart murmur, but none of us had ever heard of Marfan before, and I don’t know of anyone who has died early. Has anyone in your family who is confirmed with Marfan had such mild symptoms as me and my dad? Would it be worth doing the genetic testing? It’s so expensive, but if it effects many in my family and could be so serious I don;t want to ignore it!
Thank you.
My son age 16, is to be refered to a geneticist-he has agressive scaring on his back, hyperbobility, pretruding chest, he is not exceptionally tall-he is 5ft 11 so far,but his span exceeds his height, he has flat feet,all of which I understand are symptoms-to date he has no sight or heart problems-these will apparently be investigated-as a parent I am scared of what the future holds and dread confirmation-this will devistate him
my son has been diagnosed with marfan syndrome just this week,and i was very very lonely i cant accept it. me and my husband dont have that desease. he had a displacement of lense in both eyes. and the doctor requested me to have him tested for ecg. i hope he dont have problem in heart coz he is a very active boy.even he had a problem in eyes he can play til night .and can run and run
Hey! 🙂 My name is Collin,but that’s not important, I’ve recently regained my interest in Marfan syndrome…. I studied it dispassionately at 10 but that was quite a while ago and I’ve honestly forgotten most of the prevalent information, and so my presence here. Having reviewed the symptoms I think there is a good possibility I may be affected with Marfan syndrome… a mild form. Family history, while none of my relatives have exhibited obvious signs of Marfan, my grandfather has heart problems that required surgery and a replacement heart valve, as well as cataracts and partial blindness in one eye, my father sometimes notes that his heart will skip a beat every now and again for seemingly no reason, (it is also noteworthy to mention that my mom is nearly 5’11” my sister is 5’11” at twelve with moderate scoliosis requiring surgery and my paternal cousin also suffers from scoliosis.) me and my elder brother and I both are tall with long thin arms and fingers that are abnormally flexible, (more so my brother than I for the thinness and flexibility although I can bend the fingers in either hand backwards to a slightly less than 70 degree angle if I try.) I myself have long fingers (I can nearly touch my wrists with my finger tips…) and slightly diminished dexterity, and when I exert myself (specifically in running) I often find myself ridiculously out of breath for about two minutes, once or twice to the point where I even got dizzy and light headed. I have no signs of scoliosis or protruding sternum and I do not believe my palate is higher than normal, however I do suffer from mild back pain in both the spine and muscle even when I have not overexerted myself, and this is pretty consistent but largely ignored when I say something about it, due to the fact I’m still growing and show no signs of scoliosis, my back has stretch marks that have actually been mistaken as scratches by about four doctors (one even asked me if I’d been physically abused, I think.) My vision is actually better than most though I am a bit photosensitive and have slight astigmatism according to my optician. My recent EKG showed no abnormalities (or if they did the doctors didn’t say anything) so that’s a blessing, at least. I also occasionally have unusual feelings in my chest, (in what I’m assuming is the heart area) that didn’t last. Also my feet (and sometimes hands) are almost constantly cold even to the point of discomfort, and I am under blankets at 70 degrees, signs of poor circulation. I also may suffer from sleep apnea, although I do not believe this has been confirmed by a physician. All are possible signs of Marfanism. Oh since I appear to have neglected to mention it, I am 6’2″ and still growing. And it wouldn’t surprise me that I inheirited a genetic condition as several others run in the family as well, Autism, thyroid disease, scoliosis, and a rare genetic condition, whose name I cannot remember, that killed two of my cousins. However, I can’t really be certain if I do in fact have Marfanism as all the signs aren’t particularly conclusive and especially because there doesn’t appear to be anything wrong with my heart. Plus I have inherited at least one of the other genetic conditions I mentioned… confirmed with diagnosis. I guess what I’m looking for here is some sort of assurance that it may or may not actually be this condition, because I’ve always been called a hypochondriac, but it’s a very hard one to get a concrete answer on… I dunno, I guess it doesn’t matter, because even if I happen to be affected by it, I’ll just have to go to a doctor for a check up every now and then, my life wouldn’t be too terribly changed… Sorry if you feel like I wasted your time, Au revoir.
Hey i’m Kaitlyn XD i’m definatly not your average teen but the reason i am on this site is for a school project and i may have marfan syndrome (says my scoliosis doctor or orthopedic doc) but from what i have read i am pretty convinced i do have it which scares me because i’m very athletic and love to play sports and be outdoors if i do end up haveing marfans and have to quit all sports my world will come crashing down and make a mess that not even my mom will beable to clean… help me!
i have marfans syndrome and dont get checked that often just when am not well my chest sinks in i am 6 ft 2 have the high pallet and always get out of breath is there an opperation to corect a dented chest if so what is it
If you think you have marfan syndrome PLEASE get more then one opinion because my husband has it. He is 38 now and up until now doctors have told him it was nothing and that “if” his heart complications were a emergency then they would fix it. Don’t give up, he has had 8 relatives to die from this anywhere from 1 month old to 51 being the oldest. Not to mention more that we are learning about now. The only dr that has helped us up to this point is a Genetic Specialist that we took my daughter to and when they saw him and heard his family history was very interested in helping him and putting us on the right track to “temporarily” fix some of his heart,eye,lung and pain issues. Whatever you do don’t stop at one opinion because alot of doctors don’t even understand this syndrome and they might try to help but sometimes miss the big issues an that can be fatal.
My stepmom has marfan’s & I think she possibly may be the oldest living person with it @ 841/2. It has not been without it’s challenges. She has had heart valve replacement, cataract surgery in both eyes, almost died with a heart anuerism & many skeletal problems. She is wheelchair bound & can’t stand up though. She has beat the odds many times now & kept on going.
Unfortunately, my nephew that just turned 40 in Feb. had a brain anuerism, related to the marfans, & has had all kinds of problems since that the marfans has caused complications with, & now a brain stem stroke connected to it. He did have his aorta repaired at 28, but the only issues since then until now, have been skeletal.
My ex husband, his mother, his sister and his brother all suffered from Marfans, Sister bled out on operating table when her aorta valve was being replaced. ex, his brother and their mother lived to be about 55 when heart gave out. My youngest son has it. He has had 3 open heart surgeries, 2 aorta and 1 mitral, has eye problems and 7 degree spine curve. His son and grandson are being tested to see if they suffer from this. No outward signs. Been reading about MEN2b and there are many similar symptoms between these two. President might of had Marfans and or MEN2b.
That should have been President Lincoln.