Marfan Syndrome - causes, symptoms, diagnosis, treatment, pathology
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- เผยแพร่เมื่อ 29 ต.ค. 2017
- What is Marfan Syndrome? Marfan syndrome is a genetic disorder that results in defective connective tissue, which can affect a person’s skeleton, heart, blood vessels, eyes, and lungs. Find our full video library only on Osmosis: osms.it/more.
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After 15 years of these kind of issues coming up, I was finally diagnosed with this a few weeks ago. Now I wish to know more about it. Thanks for the informative video!
Thank you. My son has received a possible diagnosis. He is 6’3” and 125 lbs at 17. Has most of the skeletal symptoms. We are starting all the genetic and medical testing next week. We are all still in shock. God bless you all. ❤️
Same here. My son is 14 and 6'2" at 116 lbs. Getting tested next month but the evidence that he has it is overwhelming.
My son has received the diagnosis at 13. We did the genetics test and he came back negative for the gene, but has all the skeletal symptoms. Right now he has keratoconus which just happened. All of this is new and very scary. He’s almost 14, 6’3”, and 116lbs.
How frightening. 😭 Blessings and best wishes to all of you. I'm sorry you and your loved ones are going through this. ✌️❤️🔮
do both parents have to be present for the genetic testing? thank you.
I was diagnosed in 1986, but told that I had it in 1993. I had an aortic aneurysm that was 9cm across. I almost died because I didn't know that I had it. I thank God for my diagnosis because it saved my life.
this syndrome has helped my basketball career, thankfully I can grab rebounds since my arms are 4 times longer then my height
I'm glad you can find some positivity with this condition
@Kenai I don’t wish to scare you, but as somebody else who has this syndrome I would be careful. I am sure you are familiar with retinal detach, etc. Although I don’t know the severity of your variant, if you haven’t had surgery for it or actively take medication, be careful.
Lol
@@korovabozha4963retinal detachment in eds to
Lol fake😂
you know how it feels when i search for any syndrome or explanation and find osmosis explaning the same thing, what a relieeeeeef 😍😍😍
Are you a medical student or a doctor
You made medical studies easier💜 thanks osmosis
KAT lol why is a textbook not good enough? Not really that hard to understand
Will I continue To grow with my disease.
Thank u for telling me Casey Miller
Thanks! This was fairly easy to understand, and thus be easier to explain to others! Thanks! Well done! Xxx
Finallyyy!! Thank you guys, ive actually been looking for this
I've been waiting for this!!! Thanks!!!
That small explanation is simply fantastic and mind blowing. So simple yet so informative. You have no idea, what a great job you are doing for the future doctors. Thank you so much for every video
Buddhadeb Roy you look like a cool doctor
I have Marfan's and I have always been the height which would be average for people two years older than me.
Currently, I am 12, and I am 5'6'' and a half in height.
I sometimes feel like I look almost anorexic, with my stupid bony wrists and ankles, and my pointy shoulders.
Thank you for being here. It's nice to know I'm not the only one.
my cousin has marfans!! shes 10 1/2 and 5'8 :)) you arent alonee :))
Awesome video like always! Thanks, gracias
Love the sound effects
Thank you so much for this.
great work,thanks for helping to make it easy
Please do a pathophysiology lecture on Glanzmann's Disease. Thanks! Always love these videos!!!!!!
I am doing a research project on this in Biology class. This is helpful. I actually have a similar disorder Elhers Danlos Syndrome which has a lot of the same symptoms, except we look average, and it effects the joints more severely.
Very helpful video, thanks!
i love you osmosis team
Thank you very much
Its very helpful for all
this randomly popped up in my recommended. i love learning about all the different conditions/syndromes/disorders humans live with. very interesting!
Thanks! 😊
Awesome video, cleared my concepts
thanks docteur it is so halpful your amazing work
Thanks osmosis! Got to learn more about my son who has Marfan syndrome.
Thank you osmosis team for making pathology so easy ........👌👌👌 Please upload videos faster ,!!!!!!!!!!! Waiting for ur next videos.......
Stellar video! Are there any progressions in gene therapy for Marfan's?
Perfectly explained. Thank you for this :) You guys are the best!
Arthur Gyawali ya
No
Wow great job.. Thank you
I had surgery about two months ago and they fixed my aorta and chest.( 15 y and 1,95 cm and 64 Kg) It took them about 8 hours but without any complications and next week I can do sports again . The best way to avoid any problems before or after surgery is to do swimming, I swim since my birth and it help me very much. ❤
My son might need surgery. Did they cut your chest open or did they use some other method? My son is worried about scars.
for some reason I have marfan syndrome and doesn't seem to have any side effects , Im 175 cm and 50kg at 15
I have a slight hole in the middle of my chest but its very small.
@@PirateOfTheNorthFor aortic aneurysm treatment they will cut the whole belly from centre.I had that
awesome content! every reason why osmosis should be part of the curriculum.
OliveGreen غ العريفي
More video's upload pls
This video explanation is too good and understandable . i love it and make such more videos
awesome video :) Thank you so much
we need a playlist with genetic syndromes and pedia
Thank you
Great video!
i lik ur videos,becoz of simple and easy explanation u give
Saw the clips with Denver. Now I am interested.
Thanks a lot for your effort for giving us information about Marfan.
Our pleasure, Muhammad! ❤️
I was wondering if you could share your research? I would like to read on it
i think they should do a video about POTS syndrome and how pots patients can have seizures, it not talked about and not well shown and taught to doctors and i think it would be a great thing to build awareness about
Thank u so much please never stop making vids
We won't! 😊
Have an aortic regurgitation and can see my symptoms, my whole body here in this video, thanks alor
Hey!
You should go to a good doctor (specialist) and get checked for marfans syndrome and get your heart checked (ECG, Echo, etc) and other body checkup as recommended by doctor. Also ,as it is a genetic disorder and someone in your family might also have marfan syndrome so tell your all family members to get tested for marfan syndrome , heart checkup (ECG,Echo,etc) and other body checkup as recommended by doctor.
Hello, do you have the sources for this video please?
Good job
Salute to you Sir ! To your animation and Teaching you made it So clear by animating it
Most welcome, Hem! Thank you! 👍🏼
@@osmosis what is the difference between marfan syndrome and marfanoid habitus
Thanks for the information
Our pleasure, Sulaiman! 😊
helpful content
I have this, And my arms and legs are long as heck o-o
Anime Withered Toy Freddy 1987 I also have mar fans but my arms and legs are not that long
@WitheredFreddo
Hey!
You should go to a good doctor (specialist) and get checked for marfans syndrome and get your heart checked (ECG, Echo, etc) and other body checkup as recommended by doctor. Also ,as it is a genetic disorder and someone in your family might also have marfan syndrome so tell your all family members to get tested for marfan syndrome , heart checkup (ECG,Echo,etc) and other body checkup as recommended by doctor.
Went out with a man with Marfrans years ago "Tree"🙃 6ft7in skinny etc. Didn't realise that he had a pacemaker and said that he had a really loud watch!! Lol
Ended up taking a spill on the bike. He received a bung knee and it kind of went down hill from there. Aorta broke from the pacemaker. Got gangrene in his gut and sadly passed away. Late 30s.
He had a lived a great life. Loved to build his Harley's and loved his "brothers" and Me and Bobby Magee. I was very lucky to share his last ride. Peace
Holy shit that’s brutal
شكرا جدددا
Thank you 🙏
Always great
Great !
Here to know why I lost my adorable uncle to this demon of a disease. I wish my uncle disclosed it to the family so that he could be operated . Will miss him forever ❤️ love you my uncle
what program do you use when making videos and what is the name of this technique. Rejoice if you help me :) thank you
Thank.a.lot.
waiting for a video about meningitis:)!
I have marfans thanks for educating me
So can the lens of eyes be displaced granteed?
i was lucky enough to get diagnosed at 8 months old. they noticed something was up the day i was born. i’m 16 nearly 17 and am 6’3. i had my eye lenses removed when i was two. and i had my growth plates fused when i was 11 at 6’2 to stop overall growth. marian’s is a daily struggle and makes living/everyday tasks so hard but we gotta push through
One of my idols has this so it is really nice having this video to learn what he is or might go through. This was really educational so thank you!
My sister and I have it. She has the valve mitral prolapse (she had a surgery to fix it 3 years ago), but fortunately she doesn't have all the other symptoms.
I have dislocated my eye lenses two times in my live (I replaced both for artificial ones), when I became a teenager i started having the scoliosis (now I have a type 3 scoliosis), I do have the pectus excavatum too and struggled with asthma during my childhood.
This disease took literally everything I could've had in my life, I couldn't even join the army because of the symptoms.
I think I have it, I'm tall and have long skinny limbs, I've had pectus excavatum for a long time and a very over crowded jaw which has been fixed through surgery and braces. Stay strong, stay safe :)
I have marfan syndrome too.can you tell me how often we check our heart with echo cardiogram
Could you talk to me
Vedio on "Ehlers danlos syndrome"..plzz
Best video on this
Wow, thanks! ❤️
I’m not yet diagnosed but I fit almost all the criteria and have been told by daughters medical team that I most likely have this syndrome. My daughter has Prader-Willi Syndrome which is also on the 15th chromosome, and also has its symptoms associated with the connective tissue. Although my daughters form of PWS is said to be an at random genetic deletion of a small section on the 15th chromosome which she inherited paternally, I am uniquely curious to see if there is an increased risk. Anyhow, very helpful and informative video as my father is now 63 and experiencing complications from what seems to be Marfans Syndrome. I hope to get genetic testing done soon as my daughters geneticist has offer it in the past but I’ve been fearful of getting it done because of what I may find.
Hey!
You should go to a good doctor (specialist) and get checked for marfans syndrome and get your heart checked (ECG, Echo, etc) and other body checkup as recommended by doctor. Also ,as it is a genetic disorder and someone in your family might also have marfan syndrome so tell your all family members to get tested for marfan syndrome , heart checkup (ECG,Echo,etc) and other body checkup as recommended by doctor.
ghent criteria, wrist sign, steimer sign
thank you
We hope that it's been helpful! 😊
thank you so much for this! I was looking at the cast and crew for a movie, and one of the actors had Marfan Syndrome. I was like, what the heck is that? And this explained everything in an engaging way that didn't lose me at the first big word. Thank you again!
Glad that you liked our video! 😊
pathogenesis very well explained..
I almost die because of a brain hemorrhage, probably caused by a marphan, had a month in coma, it just sucks
My husband was diagnosed with this he started bad aortic anurism and 2 leaked valves did open heart surgery got synthetic aorta and one of the valves started leaking after 2 years and now the aorta dialated he was in hosp for more then 3 months where 1 and a half month was in icu now he is on blood thinners blood pressure pills going on 14th November for second open heart surgery
I hope everything is ok❤
My daughter had similar issues. She had Ehlers Danlos Syndrome Kyposcoliotic connective tissue disorder marfonoid habitus features
Hey!
You should go to a good doctor (specialist) and get your daughter checked for marfans syndrome and get her heart checked (ECG, Echo, etc) and other body checkup as recommended by doctor. Also ,as it is a genetic disorder and someone in your family might also have marfan syndrome so tell your all family members to get tested for marfan syndrome , heart checkup (ECG,Echo,etc) and other body checkup as recommended by doctor.
Thank you for this. My doctor mentioned signs of a "marfanoid habitus" when I was getting assessed for a different connective tissue disorder. Any reason why a different disorder would cause some of the same physical signs (long limbs, arachnodactyly) even though it doesn't affect fibrillin?
Hello, another connective tissue disease that can have very similar symptoms is Ehlers Danlos. Might be worth checking out.
Thank you for the heads up. I actually have already been diagnosed with EDS. I am just curious about all the "crossover" that seems to happen :)
I have marfans, I’m 16 and was diagnosed at 2.5 after my dad (marfans) was diagnosed after nearly suffering a heart attack and having open heart surgery. I’ve already had spine surgery and will need heart surgery (I have aortic dialation and moderate mitral valve prolapse). I also have extremely flat feet, and injure myself easily, and walking takes a lot more effort for me than other people, so I can’t do it as much. If anyone has any questions please ask, I’m quite experienced at this point!
its possible to get fat with this syndrome, like, im 16 and i have 50 kg, i am really skinny and i dont know what to do
OLIVEIRA-_- I presume it is possible. I’m also very skinny, under 50kg (it’s been a few months so can’t be sure what I weigh). I personally can’t find a way to put on weight to fill out even though I’m eating a perfectly healthy diet. My doctors are happy, so so am I. My dad is of pretty normal proportions, his arms are still quite skinny though, so I think as people get older their proportions tend to pretty much even out. I’m hoping that is the case anyway because people tend to make some not so nice assumptions when you are skinny, and I’m done with it! Just make sure you are eating the right amount of food for your age, and maybe if you have access to one (I don’t) speak to a dietician or your paediatrician/general doctor and see what they suggest.
@@dan5721 how tall r u?
kayleah k i’m like 5’ 10’’, but i did have spinal fusion age 13 so i have quite a short torso, my dad is like 6’ 6”!
@@dan5721 oh cool! im 14 and 5'8, but my younger brother and sister are 6'2 and 6'1, but i think its just genetics we are tall, although my cousin does have marfans, and shes about 10 and 5'10
I was diagnosed with Marfan's. I am short and fat, have short fingers and toes and no heart problems and low blood pressure. I am not the poster child for Marfan's.
If im 21 and dont have any heart issues from echo, am I in the clear
thank you for your presebtaion i am a women and 40 years old with marfan syndrom. Unfortunatly as a child nobody arround my family paid atention to it and now my left side spin is biger than the left one. I am trying some excercises to reduce back pain. But am really concerned about my eye sight as i was in Ethiopia i did not find any corrective treatment than glasses but now since 3 years i am living in Germany. I went to an eye Dr but they said i have high grade myopia. They were surrprised at this age to have about -11 and it affected much my left eye. But what surrprised me was they did not even see that i have marfan syndrom becouse it is obviouse physically. Then i asked the Dr may be it is connected with my syndrom, but sureprisedly saud the Dr you do not have the syndrom🤔 i am very long, long fingers, flat foot, bad eye sight and one sided apin deformity which is obviouse. What i conclude is there is no better diagnos and treatmet as i expected becouse i was much rager to get a better diagnos and treatment in Europ.
So my question is based on my explanatio, do you think i can chage eye lences and does it work for me or is it too late???? Pleaes help me.
What's the difference between Marfan Syndrome and Marfan body habitus? I think I might have one of these!
The difference is that if a person has Marfan body habitus, they just LOOK like they have Marfan's. It doesn't mean they actually have it. Marfan Syndrome means you actually have it. Some people just look like they have it with certain features like being tall and thin or whatever, but they don't actually have it.
@bobbyshabangu Hey!
You should go to a good doctor (specialist) and get checked for marfans syndrome and get your heart checked (ECG, Echo, etc) and other body checkup as recommended by doctor. Also ,as it is a genetic disorder and someone in your family might also have marfan syndrome so tell your all family members to get tested for marfan syndrome , heart checkup (ECG,Echo,etc) and other body checkup as recommended by doctor.
The diagnosis was not clear. I think it's at least 5 features in 3 different systems or the genetic testing.
رائع
ممتع....
You guys should listen to second and Sebring. It's about his mother dying of this when he was 17. Wait nevermind that insensitive. I'm so sorry.
Hola
Im 13 years old, I hae scoliosis, my wingspan is bigger than my height and I have pectum scavatus. But my heart is great, my lungs are fine,(I cant breathe very well because I have rhinitis) and my eyes are okay, except for the fact I have a ball on my eyes. Im not that tall. 1,70 and Im 13. Im also not that skinny. Im not sure if I have it or not
You need a genetic test to be diagnosed, they draw some blood and send it off for testing. My daughter was finally diagnosed with Marfan syndrome a few months ago, she is 6 and her symptoms are obvious down to the T. Looking at my husband's family it is definitely where my daughter inherited Marfan from but my husband is short, he however has the flat feet and skinny fingers for a man but none of the other obvious symptoms. All these years we were told her heart was fine from the pediatricians but after the diagnosis we went to the Cardiologist and had a EKG and Echocardiogram and found out she has an enlarged aortic root of 3cm and her tricuspid valve is fused together.
Actually in marfans syndrome there is high arched palate not narrowed arch* .. BTW your videos are awesome 👌
And wrist sign too.
I was searching if anyone had written what you pointed. Nice going.
nice video
Thanks, Anna! 😊
thanks a lot💗
im scared bc i have the really long fingers but literally none of the other issues. my eyes are perfectly healthy too, ughh health anxiety
Lol the dysfunctional animation 2:00
Mere husband me h ye bimari muje koi problem nhi hogi na sir
Actually and sadly, even today a lot of Dr.s aren’t familiar w this syndrome... a lot of the time, they don’t find out til a family member has died and they test you, or u til after you have died. If you have any of these characteristics, go to a specialist and get tested!
sundragon1976 That’s really true. I can’t imagine what would have happened if I hadn’t been aware of my Marfan since I was two. Thank goodness I had a good doctor.
I once went to a clinic because I was sick. When he asked me if I took any medicines, I told him I took atenolol (beta blocker). He didn’t know what it was so I explained to him that it was supposed to help stop the growth of my aorta because I had Marfan but he didn’t even know what Marfan was. Maybe he had heard about it, but he certainly didn’t know enough.
I have most of these exapt my vision is 20/20
Hey! You can consult a good doctor if you think you have most of these characteristics .
Hey!
You should go to a good doctor (specialist) and get checked for marfans syndrome and get your heart checked (ECG, Echo, etc) and other body checkup as recommended by doctor. Also ,as it is a genetic disorder and someone in your family might also have marfan syndrome so tell your all family members to get tested for marfan syndrome , heart checkup (ECG,Echo,etc) and other body checkup as recommended by doctor.
I'm not saying I have this at all, but MANY of the symptoms that are expressed by Marfan Syndrome runs in a smaller part of our family. I am mostly free from what it manifests as, but my brother has pectus excavatum, double-jointed parts through his body, is tall and skinny, and has the same sort of body type in general that those with the condition have. I have very mild scoliosis, am also tall and skinny, and have a body type resembling the condition. So overall I'm unsure if I'm afflicted with a mild form of it or not.
Hey!
You should go to a good doctor (specialist) and get checked for marfans syndrome and get your heart checked (ECG, Echo, etc) and other body checkup as recommended by doctor. Also ,as it is a genetic disorder and someone in your family might also have marfan syndrome so tell your all family members to get tested for marfan syndrome , heart checkup (ECG,Echo,etc) and other body checkup as recommended by doctor.
La que esta en ingles
We can Gain Weight?
喜Outsider No
me coming as medical students
comments section: full of patients with it
I have Marfan's syndrome!
I have marfan syndrome. I have a very mild case though. No fatal or serious symptoms so far.
how tall & old r uu
I recognise a lot of the symptoms in terms of skeleton. Im 6"3 but with scoliosis. Otherwise shouldve been like 6"5...while my dad is 5"11 and my brother is 6 feet. Always have been skinny ( now lean bc of working out). I have a long narrow face and jaw, high narrow pallate and had a lot of teeth issues when I was young. At a young age I was way too flexible ( untill I got scoliosis and surgery at some point). I have thin fingers and somewhat long and also long toes. Narrow feet that were very flat when I was young. Never had heart or eye problems related to marfan though....luckily. never did the dna tests for it but maybe I do have it.
Hey!
You should go to a good doctor (specialist) and get checked for marfans syndrome and get your heart checked (ECG, Echo, etc) and other body checkup as recommended by doctor. Also ,as it is a genetic disorder and someone in your family might also have marfan syndrome so tell your all family members to get tested for marfan syndrome , heart checkup (ECG,Echo,etc) and other body checkup as recommended by doctor.
Ever since I heard of Marfan syndrome I've been scared that I might have it. I haven't been tested but I check a lot of the boxes. I don't know how to talk to someone about it without maybe being laughed at or told that I worry too much. I'm don't know what to do...
I’m scared too, I think I might have it. Have you talked about that with someone yet?
@annieellingsson6926
Hey!
You should go to a good doctor (specialist) and get checked for marfans syndrome and get your heart checked (ECG, Echo, etc) and other body checkup as recommended by doctor. Also ,as it is a genetic disorder and someone in your family might also have marfan syndrome so tell your all family members to get tested for marfan syndrome , heart checkup (ECG,Echo,etc) and other body checkup as recommended by doctor.
@mewzoey
Hey!
You should go to a good doctor (specialist) and get checked for marfans syndrome and get your heart checked (ECG, Echo, etc) and other body checkup as recommended by doctor. Also ,as it is a genetic disorder and someone in your family might also have marfan syndrome so tell your all family members to get tested for marfan syndrome , heart checkup (ECG,Echo,etc) and other body checkup as recommended by doctor.
I’m so scared. I went for a sports checkup and the doctor said I had minor schuliosis and then measured my arm span, which was longer than my height. I’m terrified to get tested for it.
Yeah I’m also in the process of getting tested for it. I have pectus cranium. I have long arms and legs, and have stretch marks all over, and I also have flat feet. Thankfully my heart is fine.
@crocodiletoast5219 hey! Is everything ok?
@crocodiletoast5219 Hey!
You should go to a good doctor (specialist) and get checked for marfans syndrome and get your heart checked (ECG, Echo, etc) and other body checkup as recommended by doctor. Also ,as it is a genetic disorder and someone in your family might also have marfan syndrome so tell your all family members to get tested for marfan syndrome , heart checkup (ECG,Echo,etc) and other body checkup as recommended by doctor.
@@nope9885 Hey!
You should go to a good doctor (specialist) and get checked for marfans syndrome and get your heart checked (ECG, Echo, etc) and other body checkup as recommended by doctor. Also ,as it is a genetic disorder and someone in your family might also have marfan syndrome so tell your all family members to get tested for marfan syndrome , heart checkup (ECG,Echo,etc) and other body checkup as recommended by doctor.