Marfan Syndrome - Diagnosis by Prof Julie De Backer

Рет қаралды 67,245

6 жыл бұрын

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

Пікірлер: 77

@kellibryant707 3 жыл бұрын

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.

@patrykrokosz1112 2 жыл бұрын

How is he?

@drkpk384 Жыл бұрын

@kellibryant707 Жыл бұрын

@@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.

@mariamubakari8145 11 ай бұрын

Hi,my country is Tanzanian,My son is marfan syndrome he is eleven years old

@constancerobinson1377 7 ай бұрын

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.

@nickallen6938 4 жыл бұрын

Thank you for your presentation.

@imeneimeneamouna8268 5 жыл бұрын

Merci pour toute ces explications

@aintapuppy 8 ай бұрын

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!

@Feirin332 Ай бұрын

Might be Ehlers Danlos syndrome too.

@masu8711 26 күн бұрын

i had Supraventricular Tachycardia but got treated by an ablation (electrocardiogram and ekocardiogram before it) , seems it was just of the electric signals as i have been told, even though doctor told me i am tall and strechy, thats why my heart valve may be strechy and i may have faster heartbeat than average even if its treated i am tall for my age, my wingspan is nearly same as my lenght and im quite slim with slim fingers and a long face, but i dont have aorta problems or lens disclocation, just myopia and astigmatism (i got it checked too) i dont have problems with chest formation but a little bit of kyphosis (self diagnosed and may be non-accurate) i got an X-ray before my ablation and i have never been told about such problems i dont have problems with my teeth and have a normal jaw, just a bit high arch palate than normal for last i have strech marks a lot too i scored 7 and i dont know if i should be concerned anyone could help?

@clasesanato1159 3 жыл бұрын

Excellent

@bambam144 3 жыл бұрын

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.

@m.janusiga1825 2 жыл бұрын

Can you tell me is marfan syndrome cause brain hemorrhage

@user-di8hm2jl2u 10 ай бұрын

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.

@VASCERNERNRareVascularDiseases 10 ай бұрын

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.

@alexiafigueroa6263 3 жыл бұрын

just got diagnosed at 19, have been researching this a bunch. Thanks!

@jetsincfool 3 жыл бұрын

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

@caiusion3893 2 жыл бұрын

@@jetsincfool go do a dna test for marfan syndrome its aviabile in all countryes

@imadahmad8691 Жыл бұрын

@@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

@draganstojke1671 Жыл бұрын

@@imadahmad8691 ???

@janinemaxwell4297 11 ай бұрын

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

@drunky8 10 ай бұрын

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.

@cassandrahawes8970 Жыл бұрын

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.

@wallacesousuke1433 Жыл бұрын

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

@jercasgav 10 ай бұрын

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.

@MH-hw4uh 5 жыл бұрын

Very informative!!!!

@VASCERNERNRareVascularDiseases 5 жыл бұрын

Thanks a lot Odette :) Do not hesitate to share !

@MH-hw4uh 5 жыл бұрын

I have Marfan Syndrome

@nouranina2490 5 жыл бұрын

Stp aid moi mn frr il a souffert de cette maladie marfan stp 😟😟😟

@Shinigamigaz 2 ай бұрын

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❤

@abdalsalam_badr 2 ай бұрын

Thank you, keep the answer to yourself.

@vetiverose128 Жыл бұрын

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....

@janellee250 Жыл бұрын

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

@spulwasser 3 жыл бұрын

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

@Julia-wg4yx 3 жыл бұрын

Wurdest du getestet? (:

@spulwasser 3 жыл бұрын

@@Julia-wg4yx Ne, bisher nicht... 😬

@Julia-wg4yx 3 жыл бұрын

@@spulwasser 😳Bekommst du keinen Termin? Wo ca. in Deutschland lebst du denn?

@spulwasser 3 жыл бұрын

@@Julia-wg4yx habe mich bisher einfach noch nicht drum gekümmert, weil ichs wieder vergessen hatte...

@Julia-wg4yx 3 жыл бұрын

@@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) (:

@mariamubakari8145 10 ай бұрын

Mwanangu ana marfan syndrome ana miaka 12,haoni na valve yake haifungi vizuri

@Oppenheimer-id2dn 7 ай бұрын

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

@The_plug_for_everything 6 ай бұрын

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.

@Oppenheimer-id2dn 6 ай бұрын

⁠@@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

@IDK-cs2zg 10 ай бұрын

I am 15 my wingspan is longer than my height other than that i dont think i ahve other symptoms what should i do

@VASCERNERNRareVascularDiseases 10 ай бұрын

If you have any concerns, it's a good idea to schedule an appointment with a doctor to discuss this further.

@alaaadel8900 2 жыл бұрын

*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.*

@GnosticMindTrain 3 жыл бұрын

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.

@GnosticMindTrain 3 жыл бұрын

Also like to add I'm 25.

@isaachouse1664 2 жыл бұрын

Is lack of body hair a symptom?

@hann1032 2 жыл бұрын

What mental issues do you have?

@dorothymadzvova2680 Жыл бұрын

Possibly Marfanoid habitus, not necessarily Marfan Syndrome

@draganstojke1224 Жыл бұрын

@@dorothymadzvova2680 what is the difference between marfan syndrome and marfanoid habitus?

@nouranina2490 5 жыл бұрын

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 🙏🙏🙏🙏

@VASCERNERNRareVascularDiseases 5 жыл бұрын

Dear Noura, the list of VASCERN HTAD expert centers are available on our website here: vascern.eu/expertise/rare-diseases-wgs/aorta-wg/

@anonymusanymd9957 4 жыл бұрын

En France nulle aussi

@Franz19970 8 ай бұрын

I had this my whole life and now am on my death bed. Worried about literally spontaneously combusting

@vandita4006 3 ай бұрын

Hey! You can visit a good doctor

@ded5630 3 жыл бұрын

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

@b3127R Жыл бұрын

I'm freaking out rn 😭 I have some symptoms and I play tennis so idk if I can play it anymore idk

@coryindahus7319 4 жыл бұрын

Bruh why am i watching, im a borderline midget at 5'7

@quinn2014 3 жыл бұрын

Never hurts to learn new things

@GnosticMindTrain 3 жыл бұрын

I have a rare form of it and it doesn't make me tall. I'm 5'7 too.

@coryindahus7319 3 жыл бұрын

@@GnosticMindTrain absolutely brutal. You have marfan without any of the upsides

@GnosticMindTrain 3 жыл бұрын

@@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.

@fedor5664 3 жыл бұрын

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)