Doctor insights on:
Can Or Should I Get Treatment If Marfan Syndrome And Infertility
It depends.: If you are a man or a woman you need genetic counseling to understand the risk of genetic transmission. To avoid this risk, ivf+preimplantation genetic diagnosis is available for Marfan syndrome. If you are a man or a woman then you need to be tested for various fertility factors just like any-one who's unable to conceive for 1y. Women need cardiac evaluation esp. For aortic root dilatation. ...Read more
Can I still be active in full contact sports with Marfan syndrome? Lets say its a mild one and I don't take any treatment yet
I have dural ectasia and have constant pain and stiffness I don't have Marfan syndrome what can I do for treatment or type of doctor besides pain meds?
Back pain / ectasia:
A condition like dural ectasia can be very troublesome. Besides pain medication, people with this condition may respond to physical therapy, surgery, stimulator therapy or muscle relaxant treatment.
Recruiting a physiatrist or PMR doctor and a neurosurgeon to your team would be helpful. ...Read more
For the heart...: From a cardiologist's perspective, we want to make sure that the aorta is not too enlarged and that the blood pressure is well controlled. Classically we use a beta blocker to reduce wear and tear on the aorta, but newer trials are ongoing to see if a class of medicines known as ACE-inhibitors are helpful for this. There are important eye and ligament things to keep track of as well. ...Read more
Several treatments!: Yes! children and adults with Marfan syndrome can have gradual widening of the aorta - the major artery connected to your heart. Sometimes the aorta becomes so weak that it breaks. But your cardiologist can use an ultrasound machine to watch your aorta very carefully. She can treat you with medicines to slow down the enlargement, and your chest surgeon can even replace your aorta if necessary. ...Read more
Sure: Here you are: http://www. Marfan. Org/about/marfan.Get a more detailed answer ›
I think I have Marfan syndrome, but I'm not sure if I want to go get checked. Will it affect insurance?
Unknown: The new health care law says that insurers cannot deny insurance for "preexisting conditions". So if this health care law stays in place it will not be a problem. No matter what, if you may have marfan's you need to have it confirmed, and if positive see a cardiologist. With good care, pts with marfan's can have normal lifespan. Without care they can have cardiac problems. ...Read more
See a geneticist: There are many options for genetic testing for Marfan syndrome, but for a baby the best answer comes not from tests but from a careful history, family history, and physical examination. Sifting through the information and making sense of it in light of the new diagnostic guidelines (the 2010 ghent criteria) may show you that testing makes sense - or maybe not. Your clinical geneticist can help. ...Read more
Potentially yes..: Marfan syndrome is a disorder of the connective tissues which strengthen the body--medically, it affects the skeletal (weaker tissues, joints, flatfeet etc), cardiovascular (dilated aortic root, valve trouble etc.), eye (cataract/lense dislocation), and skin systems. Most dangerous is involvement in the heart as above. Unfortunately, no specific medication available. Consult doc. Good luck. ...Read more
Please explain if it is possible to only have the physical conditions of Marfan syndrome and if so how can I get rid of it?
In your genes: Marfan syndrome is caused by a mutation in in the gene that codes for fibrillin-1. You cannot change your genes. Abnormal or deficient fibrillin production affects the structure of your eyes, heart, blood vessels, and bones and ligaments. The severity of effects in different individuals is highly variable. ...Read more
Could preimplantation genetic diagnosis or genetic engineering get rid of diseases like Marfan syndrome?
Yes: An embryo could be tested for the Marfan mutation and only implanted if it did not contain that mutation. The same is true for a large number of other autosomal dominant or recessive diseases. ...Read more
I am able to do the hand signs for Marfan syndrome but wasn't diagnosed yet, can I just look like a marfan?
Joint hypermobility: Joint hypermobility is only one of the symptoms that is used to diagnose Marfan syndrome (along with reduced upper to lower body segment ratio, longer arm span than height, dislocated lens in the eye, among others). Joint hypermobility can occur in otherwise healthy individuals and should be managed with muscle strengthening and other exercises to protect the joints. ...Read more
Marfans syndrome: Inherited disorder of connective tissue but can be sporadic. Usually dx in adolescence. Affects: Skin, bone (teeth, spine), eyes (lens dislocation), nervous and cardiovascular system (aorta, associated with mitral valve prolapse). Features: Tall, thin, long arms & legs, fingers. ...Read more
Doubtful: That's a great question for a disability lawyer. (you're unlikely to find any on this website). ...Read more
Marfan is caused by: A mutation in the fibrillin gene on the long arm of chromosome 15, 15q15-q21.3. Autisomal dominant inheritance with widely variable clinical findings. Aneuploidy is having an abnormal # of chromosomes from a genetic accident during cell reduction (meiosis). ...Read more
There are two chronic issues in Marfan's from the cardiovascular point of view.
1. Ascending aortic dilatation.
2. Mitral valve disease.
By reducing heart rate and blood pressure, Atenolol reduces shear stress in the ascending aortic, reducing the rate of dilatation.
By reducing blood pressure, the mitral valve will be less incompetent.
Take the med. See your doctor regularly. ...Read more
Not Entirely Common: Marfan's patients can have spontaneous collapse of the lungs (known as pneumothorax). I would not say it is very common but it can occur. Typically marfan's patients have small air pockets at the top of the lungs called blebs. These blebs can rupture causing an airleak into the space between the lung and the chest wall. The air pushes on the lung causing the collapse. ...Read more
Not necessarily.: Joint popping and joint pain may be present, but Marfan is different in almost every patient. ...Read more
Routine meds: Routine allergy and asthma medications such as claritin, zyrtec, benadryl, (diphenhydramine) singulair, antihistamine eye drops, antihistamine or steroid nasal sprays, steroid oral inhalers, carefully-used bronchodilator inhalers, etc... Should all be ok to use in Marfan syndrome. Bronchodilator inhalers, if overused, will cause a rapid heart rate, which is not desired in Marfan syndrome patients. ...Read more
ADHD has not been: Proven to have an increased incidence in Marfan syndrome; it occurs ~! the same rate as in other kids. Take medical & psychological reports that confirm diagnoses to his teacher & request a " section 504" for classroom accommodations for "other health impairment, " if he has no learning disability that requires an individualized educational plan under public law idea. See chadd. Org for more info. ...Read more
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