Marfan Syndrome - Diagnosis by Prof Julie De Backer
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- Опубликовано: 1 мар 2018
- An introduction to Marfan Syndrome and its diagnostic criteria by Prof Julie De Backer, Chair of the Heritable Thoracic Aortic Diseases Working Group (HTAD-WG).
This Pill of Knowledge (PoK) gives an overview of the diagnosis of Marfan syndrome with its main clinical manifestations and diagnostic criteria described. The genetics of this rare disease are also briefly outlined in a clear and comprehensible manner. This video is a great introduction to Marfan syndrome that is suitable for both the general public and the medical community.
PoK are the deliverable for VASCERN Work Package 4 on Pills of Knowledge, defined as short single video lessons (of approximately 3-5 minutes long) in which an expert talks about a specific topic that has been selected and validated by the Rare Disease Working Groups (RDWGs).
Video in English. Subtitles available in English, French, Dutch, German, Hungarian, Italian and Spanish.
To learn more about the HTAD-WG: vascern.eu/expertise/rare-dis...
To learn more about VASCERN, visit our website: www.vascern.eu
Merci pour toute ces explications
Thank you for your presentation.
Help me do the count. I’m frazzled right now and saddened. They say my son may have this possibility. Seeing a cardiologist for a heart murmur that is new in the last year, he has long arms, fingers, legs, sternum is concave, jaw crowded, stretch marks on his back always been tall and now almost 6’4” and just turned 15. Weighs 150. Hunches and also face is getting more narrow as he grows. Pray he will be ok.
How is he?
hi
@@patrykrokosz1112 He’s doing well. He’s basically just winded and tired most the time and not able to perform physical exercise. I guess in his case he’s super chill and thin so he doesn’t have to for weight management . I do worry about his cardiovascular health since he’s not supposed to do anything that could raise his heart rate and blood pressure.
Hi,my country is Tanzanian,My son is marfan syndrome he is eleven years old
A cardiologist will put your son on high cholesterol and high blood pressure medicine to protect his heart ( if he has MarfAn) You should have him checked out by an orthopedic, cardiologist, pulmonologist and get a good good and they all talk to each other h ither is his wing span longer than his height? I am 6’2 and the length from tip of right to to tip of left fingers is 6’5”. MarfAn does have a lot of concerns but the biggie is to have good care and ahead of any problems.
I am about 6’2 or 6’3, I wear a shoe size 13, I have pectus carinatum, I’ve had osgood schlatter’s (knee cartilage overgrowths) as a teenager (which left me limping for years), and my hands/fingers aren’t as incredibly long as the photos- but they meet the criteria. My friends also consider me flexible- I can bend my thumb down to touch my wrist and can contort myself pretty effortlessly… might need to see a doctor for confirmation! thanks for bein a resource!
Might be Ehlers Danlos syndrome too.
Excellent
Very informative!!!!
Thanks a lot Odette :) Do not hesitate to share !
I have Marfan Syndrome
Stp aid moi mn frr il a souffert de cette maladie marfan stp 😟😟😟
just got diagnosed at 19, have been researching this a bunch. Thanks!
Hey how was test for it. I’m 27. They thought I had it when I was 15 but didn’t get the test. I’ve had my heart sonogramed and it came back normal. Just curious all what they do. My friend said they can catch it with just blood test sometimes
@@jetsincfool go do a dna test for marfan syndrome its aviabile in all countryes
@@jetsincfool hey, sorry if this is late. i had my test done about 5 days ago and they had initially done tests to check for mitral valve prolapse and other things for marfans. doctor said i had slight pectus excavatum and unusually long limbs. a blood test was done to check if i lack fbn1 gene and thats what the final diagnosis is going to come down to. havent gotten the results yet tho, fingers crossed they turn out good
@@imadahmad8691 ???
many thx for the infos. i will check my eyes after this video, 'cause i have the marfan syndrome survived an aorta dissection, a stemi, a pneumonia with a coagulum, a mitral valve insufficiency and cerebral hemorrhage. i have gotten all these in 59 days. ps during the whole time i have been in a delirium. good luck folks and take care.
Can you tell me is marfan syndrome cause brain hemorrhage
My son was just diagnosed- he has pectum excavatum, severe scoliosis with deformity requiring a spinal fusion, major vision issues, collapsed arches of the feet as well. Luckily his last echo was good. Its hard but we are finally going to get help. I had a double vertebral artery dissection without cause so I am sure its genetic. I am a 43 yo woman who is 5’11” with similar symptoms.
It is good to hear you are getting help. Feel free to watch other videos that we have on Marfan Syndrome to learn more. Thank you for watching and sharing your story.
My son was diagnosed with soft features of Marfans syndrome. He is 7” his arm span is greater then his height he has flat feet can wrap his fingers around his wrist has problems with his eyes, his heart was ok but he has very low blood pressure and very low rest heart rate. They didn’t do any blood tests oh and his shoe size is 15 so I am wondering exactly what it means when they say he has soft features and what does he need to have to be properly diagnosed
Hi, I was diagnosed with Marfan syndrome when i was 14-15. You dont have to worry about it so much i have flat feet and an issue in my skeletal system and i have long arms and i have Heart atrial septal defect etc.. dont worry so much about his syndrome it is ok only worry if he tells you that he has a problem.
I know I don't have this, but I definitely have mitral valve regurgitation. I knew something was wrong with my heart since I was like 10, but no one believed me. So when I was like 24 there was a free heart clinic. I went and was diagnosed. I had lots of pain off and on when I was younger, but it's gotten much better with age. I haven't had pain for many years.
What were you diagnosed with? And what kind of pain?
I have mitral valve regurgitation and some signs of Marfan but have never been examined for that by a specialist or did any genetic test, I'm so scared since I like to work out
Might want to check and see if you have positive Beighton and Brighton score signs for ehlers-danlos syndrome...another collagen based genetic connective tissue disorder with several subtypes.
I was checked for Marfan syndrome through my school's health program but they didn't do any genetic testing. Just physical check-up and I was given the all clear. While I don't have long finger/toes or flat feet, I'm tall and I do have long legs, neck and arms. So I don't know....
Please keep in mind because I was diagnosed at 5-6 yrs. just having long limbs doesn’t mean you have it. You must go for further internal testing such as your heart will be the number 1 tell sign along with other tests
Mwanangu ana marfan syndrome ana miaka 12,haoni na valve yake haifungi vizuri
No-one with Marfan Syndrome should get married, it is a death sentence.
Be careful babies, you are stronger than you could ever imagine, look after your hearts and protect them.
I know you, I know your suffering and I know why.
Self love❤ is all you need and I will love all of you always because you all take on so much, I feel it.
I have Marfan syndrome, I am 34 years old and I have overcome my disability and I'm only getting stronger and I believe you all have the power to do the same.
Increase your energy, be fearless, be strong.
You are loved more than you know.
Whatever happens you are protected and you will learn in time how powerful you really are.
Understanding duality is essential, we have both light and dark aspects of our subconscious and our thoughts change the world.
Be the change you want to see.
Be the miracle❤
Thank you, keep the answer to yourself.
I've got quite a lot of those symptoms... Maybe I should get checked out so I won't suddenly die of aorta problems I didn't know 🤪 we have some hospitals here IN Germany that specialized in this
Wurdest du getestet? (:
@@Julia-wg4yx Ne, bisher nicht... 😬
@@spulwasser 😳Bekommst du keinen Termin? Wo ca. in Deutschland lebst du denn?
@@Julia-wg4yx habe mich bisher einfach noch nicht drum gekümmert, weil ichs wieder vergessen hatte...
@@spulwasser Ach so ... (: Aber falls du dich untersuchen lassen willst, man kriegt eigentlich relativ "schnell" nen Termin (bei mir waren es ca. 1.5 Monate) (:
I’m 6’4 154 pounds very skinny fat scoliosis with some kyphosis long fingers arms and stick legs which I can’t seem to grow I recently found out about this genetic disorder and I’m just disappointed man I can’t believe it I don’t have the lens detachment issue but I have nearsightedness and some floaters I have very little facial hair too so I guess I don’t need testing it’s pretty much confirmed my joints are always aching I hope as technology gets better stupid diseases like this can go
Definitely same with me. Same height and same symptoms. Just found out about this too. I’ve always been worried why I couldn’t grow my stick legs.
@@The_plug_for_everythingah man I’m sorry bro it’s a bummer but what can we do I genuinely hate my physique long arms legs and torso my legs look so skinny i feel so insecure my back is hunched back and my hairline is receding
I am 15 my wingspan is longer than my height other than that i dont think i ahve other symptoms what should i do
If you have any concerns, it's a good idea to schedule an appointment with a doctor to discuss this further.
Mine is caused by chromosome 17p13.3 duplication. Not tall, 5'7, but have mild scoliosis, left side of chest is bigger, underweight, skinny arms and legs, long fingers, no aortic issue, and a falsetto voice and sometimes nasally. Also I lack body hair in some areas like my chest and stomach. Also mental issues from birth and later on.
Also like to add I'm 25.
Is lack of body hair a symptom?
What mental issues do you have?
Possibly Marfanoid habitus, not necessarily Marfan Syndrome
@@dorothymadzvova2680 what is the difference between marfan syndrome and marfanoid habitus?
Mn frr ila avait cette maladie et ici en Algérie j pas trouvé des médecin de cette maladie tu peu me aidé I need the help 🙏🙏🙏🙏
Dear Noura, the list of VASCERN HTAD expert centers are available on our website here: vascern.eu/expertise/rare-diseases-wgs/aorta-wg/
En France nulle aussi
*اللَّهُمَّ صَلِّ عَلَى سَيِّدِنَا مُحَمَّدٍ نُورِ الْأَنْوَارِ وَسِرِّ الْأَسْرَارِ وَسَيِّدِ الْأَبْرَارِ، وَزَيْنِ الُمرْسَلِينَ الْأَخْيَارِ وَأَكْرَمِ مَنْ أَظْلَمَ عَلَيْهِ اللَّيْلُ وَأَشْرَقَ عَلَيْهِ النَّهَارُ، وَعَدَدَ مَا نَزَلَ مِنْ أَوَّلِ الدُّنْيَا إِلَى آخِرِهَا مِنْ قَطْرِ الْأَمْطَارِ ،وَعَدَدَ مَا نَبَتَ مِنْ أَوَّلِ الدُّنْيَا إِلَى آخِرِهَا مِنَ النَّبَاتِ وَالْأَشْجَارِ صَلَاةً دَائِمَةً بِدَوَامِ مُلْكِ اللَّـهِ الْوَاحِدِ الْقَهَّارِ.**اللهم صل على سيدنا محمد وعلى اله وصحبه وسلم تسليما كثيرا عدد خلقك و رضا نفسك وزنة عرشك ومداد كلماتك و عدد ما كان وعدد ما سيكون وعدد الحركات والسكون.*
Damn my hands are exactly like that and my toes do be long as fuck and my arm span is longer than my height but I think I’m fine
I'm freaking out rn 😭 I have some symptoms and I play tennis so idk if I can play it anymore idk
I had this my whole life and now am on my death bed. Worried about literally spontaneously combusting
Hey!
You can visit a good doctor
Bruh why am i watching, im a borderline midget at 5'7
Never hurts to learn new things
I have a rare form of it and it doesn't make me tall. I'm 5'7 too.
@@GnosticMindTrain absolutely brutal. You have marfan without any of the upsides
@@coryindahus7319 Mine is caused by chromosome 17p13.3 duplication. I am 100 pounds and 25. Deformed chest. Arm length is normal. Skinny deer looking legs. Long fingers. Mild scoliosis. No health complications so far.
Man maybe i should get tested, i am not short (6'1 actually but that at 15 and normally sized not fat not skinny) but i have huge hands (23/24 cm in spread width and 21 cm in length) and i have reasonably large feet (europe measurements i have size 46)