Marfan Syndrome

Marfan Syndrome is an autosomal dominant multi-system genetic disorder characterized by abnormal manifestations in the skeletal, cardiovascular, and ocular systems. The typical facial features observed in Marfan syndrome include: an elongated face, deep set eyes, flat cheek bones, a posteriorly positioned jaw, and down slanting palpebral fissures. Increased linear growth of the long bones is a common finding and generally results in a tall stature with long limbs. The torso length to leg length ratio is often reduced, while the arm span to height ratio may be increased. Thoracolumbar scoliosis, as seen in this image, is also commonly present. Increased joint laxity and arachnodactyly are common, and when both present the combination can result in a of couple signs. The wrist sign is positive if the distal phalanges of the thumb and fifth finger overlap when the wrist is grasped with the opposite hand. And a positive thumb sign is present when the entire distal phalanx of an adducted thumb is visible beyond the ulnar border of the hand. Some other common skeletal manifestations include pectus excavatum, pectus carinatum, hindfoot valgus, and pes planus. A variety of ocular manifestations can occur, such as sublaxation of the corneal lens, myopia, cataracts, and glaucoma. Ectopio lentis, in which the lens is typically displaced upwards and temporally, is a cardinal feature of Marfan syndrome. Aortic dilation is a potentially life-threatening complication can occur. In this echocardiography we can see that the aortic root is abnormally wide. Aortic dissection is another serious complication. In this echocardiography we can see a double lumen. Blood flow through during ventricular systole indicates that the upper lumen is the true lumen. Two other cardiac manifestations that commonly occur in patients with Marfan syndrome are mitral valve prolapse and a bicuspid aortic valve. As well, many other abnormalities may be present, such as herniae and skin striae. Although it is an autosomal dominant condition, the phenotypic expression is highly variable. Affected parents may not even be aware that they have it and may negate a family history of the disease. De novo gene mutations also occur, in which case no other family member will be affected. The diagnosis can be made if ≥2 of the following are present: family history, ectopia lentis, aortic dilation/dissection, or a causal mutation in the FBN1 gene. It is important to note that a minority of patients with Marfan syndrome do not have a defined FBN1 gene mutation. If the patient only has the aortic criterion or a positive family history, then a systemic score 7 or more in the REVISED GHENT CRITERIA is required. Transthoracic echocardiogram screening is recommended at 6 - 12 month intervals. Consider B-blockers and advise patients to AVOID caffeine, stimulants, weight-lifting, and high intensity/contact sports. The addition of an angiotensin receptor blocker is also indicated for patients with an aortic aneurysm. Low to moderate-intensity exercise is beneficial and should be encouraged

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Disclaimer: All the information provided by Medical Education for Visual Learners and associated videos are strictly for informational purposes only; it is not intended as a substitute for medical advice from your health care provider or physician. If you think that you or someone that you know may be suffering from a medical condition, then please consult your physician or seek immediate medical attention.

[sheliadixon]

Every time I go to a doctor I’m asked if I have this because I have long finger, long legs, I can do all the hand tests. I have a large hand bigger than a man hand. But I’ve been tested and it’s negative

[ElPsyKongroo]

Dude just call the fifth finger the pinky, we aren't robots here

[RL-zyzm]

Great stuff ! Keep up the good work my brotha

[missharry]

I have the hand signs, crowded teeth and high narrow palate, have had cataract surgery at a relatively young age, and my span is greater than my height. But I have no hypermobility.

[Fuzmonster]

Got real long linbs with no thickness, angled feet, small hands and pectus excavatum.
Might need to check if I have

[Vicfoot]

If I have all 3 of these hand symptoms does that mean I most likely have it? Lmk pls

[ToxicSocks]

I have pectus, long fingers, a tall body, crowded teeth, buckling of the valve and flat feet.







*well crap*

[AngelLovesTwice]

i have all 3 at 1:02 and my torso is skinny but my legs are not. Is this normal?

[robtheslob]

I have long fingers and toes but my arms and legs are proportional and I don’t have a chest cavity, and I’ve never had vision problems im 22 I feel like I have it 😭

[kaity]

My doctors are worried because of my very fast growth in height and arm span. I also have abnormal flexibly in my hands. So I have to watch out if these symptoms get worse or if I get more related to marfan syndrome

[user]

I have some of these symptoms, but am having a hard time finding a doctor to diagnose me. How else do I know if I have this syndrome, or if I'm just freakishly thin and lanky?

[anuchithra]

I have marfan syndrome, am i unable to gain weight?

[bepeplia]

Seems i have arachnodactyly. I knew my fingers were weirdly long

[perseusofmacedon]

I am 16 and 1.85 my hands are 193 cm I really don't want to have this

[m.janusiga]

I have marfan syndrome too.guys anyone tell how often we check our heart with echo cardiogram

[therickrollermaster]

I was hopping to get a diagnosis but considering the recommendations to AVOID are all things I do a lot. I guess I don't a diagnosis
(this is a joke, coffe is not worth a heart attack)

[BroSender]

I have the thumb and wrist sign, my hands are also very bony and my veins are very visible...

[jdopperman]

Long legs and arms, crowded teeth, severely nearsighted and flat

[l.c]

I have pigeon chessttt and long fingers

[alaaadel]

*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.**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.*