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What is Marfan Syndrome

Marfan’s Syndrome is genetic. It is a disease of the connective tissues in the body. Your connective tissue are very important since these serve as fibers that really make up the human body as a whole.

Typically, a person that has Marfan’s Syndrome is usually very slim and too tall. Their body is not in proportion with them at all. They don’t appear natural. There has been facts recorded in history that the president Abraham Lincoln probably had Marfan’s Syndrome, but that is not a for sure known fact. The facts recorded say that about one person in every 5,000 have Marfan’s Syndrome, so it really isn’t too common, but more common than some other disorders.

Other symptoms of Marfan’s Syndrome are, (1) the person is flat-footed, (2) vision is near-sighted, (3) the breastbone of the chest sticks way out, (4) teeth that are out of position and very crowded, and, (5) heart murmurs.

This Syndrome can have many complications with it. One of the worst complications seen is cardiovascular problems. Since the connective tissues do not perform in the right way, this has a direct affect on the aorta which is your central artery that runs directly over your heart, and gives your body the blood supply it needs. If this is really weakened, then it can cause things like aortic aneurysm, aortic dissection, and heart valve problems.

Eye problems are also commonplace in people with Marfan’s Syndrome. This is because there is a problem with the strength of the ligaments that are made to hold the eye lens in the correct position. Other eye problems such as loss of vision due to glaucoma, and cataracts can easily develop in this disorder. Retinal detachment may also appear as another complication.

Because the chest wall is deformed, there are also likely to be lung problems. People that have Marfan’s Syndrome also have severe scoliosis which is spinal curvature. The spinal curvature can cause the chest wall to cave in, and likewise, there are problems with breathing.

Other complications due to the chest being caved in, are a higher risk of COPD, severe asthma or emphysema, and a number of problems breathing during sleep, one of which can be sleep apnea where the person stops breathing for several minutes.

Testing for Marfan’s Syndrome involves several things. One of the first tests is an MRI and CT scan to get clear images of the brain.

Heart testing, the most important one being an echocardiogram where images are seen are vitally important in detecting the heart damages. An EKG can pick up on abnormal heart rhythms, or else the wearing of a 24-hour monitor can more completely see the whole picture.

Eyes will have to be examined most thoroughly by an opthalmologist.

Treatment of Marfan’s Syndrome once it is suspected and diagnosed, will be treating the problems that go along with the disease. For scoliosis, a back brace will need to be used, and if possible, surgery to help correct the curvature if it is really severe.

A number of heart drugs will need to be given for the problems that occur which are usually many, to help the blood flow, blood pressure, and stabilize the heart rhythm.

Sometimes heart surgery to replace the valve of the aorta is needed if it becomes critically enlarged. This surgery is not usually done only once, but many people with Marfan’s Syndrome have this problem over and over, and need many heart surgeries.

Various eye procedures will also need to be done for sure. They can treat the glaucoma problems with drops, but cataract formations will need removal. If a detached retina is a problem, then surgery to repair the tear or detachment that has occured.

They can do surgery to repair the caved in chest and make it more comfortable. They do have ways to hold the ribs in place so that it also looks better and makes the person less self-conscious.