Marfan Syndrome

Marfan Syndrome is a very complex connective tissue disorder. It is genetic in nature. Connective tissues are defined as fibers that are a supportive network for the body. Marfan Syndrome then, can involve many parts of your body which means the skeleton, blood vessels, eyes, and heart. This disease can be in either a mild or a severe form. Some of the medical conditions caused by this disorder can potentially be fatal.

Characteristics

People that have Marfan Syndrome are commonly known as tall and thin people. The arms and legs which are unaturally long, are not in proportion with the rest of the body.

Symptomatology of Marfan Syndrome

Body is not in proportion as it should be

People that have the problem are tall and slender.

The breastbone sticks way out or goes way in.

Teeth are all crowded or the palate may be way too high

The heart has murmurs

Vision is charateristically nearsighted

Scoliosis is common

The feet have no arch and are totally flat

What causes this problem?

There is a defective gene that does not produce proteins as it should. Either male or female has to have the gene to pass it on to children.

Complications that can arise

In the cardiac category there are many. They are:

Valve problems Sometimes persons with this disorder have heart valves that have not formed properly. When the heart muslces have to work a lot harder, this can lead to heart failure.

Aneurysm of the Aorta Since the blood causes pressure leaving your heart, this causes a bulge in your artery. The artery leaves your heart at the aortic root, and the aneurysm an start from right there.

Dissection of the aorta Your aorta wall is in thin layers. They call this dissection when small tears down inside the heart allow the blood to get into both the inner and outer layers of the wall. This dissection will make the vessel weak, resulting in rupture of the aorta. This can easily cause a massive heart attack.

Eye Problems

Eyes can have problems with the lens due to lack of strength in those ligaments that are responsible for keeping your eye lens in place.

Glaucoma is not uncommon in this medical disorder. See this link. Cataracts can happen easily since the eye lens is often misplaced.

Retina detachment which is a tear in the tissue that is sensitive to light.

Lung Problems

Scoliosis brought on by this disease can affect your breathing. If a person has a chest that is turned inword this is cause for feeling a shortness of breath. Other problems that pose a risk with this disorder are COPD, lung that collapses, sleep apnea and, emphysema

Diagnosing Marfan Syndrome

Doctors don't often have an easy time diagnosing this medical condition since the disease itself is very challaenging. There has to be a certain number of symptoms to diagnose the problem for certain, and some people may have a few symptoms, but not so many to diagnose this problem.

Tests used to diagnose Marfan Syndrome in general are:

Electrocardiogram and Echocardiogram The echocardiogram takes an actual picture of the whole heart. Therefore it gives an overall picture of how well the valves and chambers are working. They can go further and do a transesophageal echocardiogram to pick up on the heart sound waves. The EKG checks for problems in your heart rhythms.

MRI and CT scans can get a close up of the heart's aorta. Images of the aorta can be picked up through injection of a dye into the vein that outlines the heart.

Glaucoma Testing is done by an eye pressure test. Eye drops are given that will deaden the eye so the eye doctor can get a measurement of pressure in the eye.

For lens problems the eye doctor can perform what is known as a slit-lamp examination. Eye drops are placed into the eye to also check for misplaced lens, cataracts, and a retina that is detached.

Treating the problem

This problem may be treated with medications that focus on the complications brought on by the disease. One of the primary drugs given is a blood pressure pill or pills to protect the aorta in the heart from rupturing. These drugs will also slow the heart down creating less pressure, and therefore less chances of dissection or rupture.

Heart surgery may be done if your aorta is dangerously large. They can replace part of an aorta so that there is less chances of rupture. This may need doing several times in people with this problem.

Scoliosis problems may be treated with a special back brace or surgery if the problem is very severe.

Chest caving in can be treated by surgery which will raise up the sternum and also ribs. That way the breathing problems should lessen.

Eye trouble corrections

Eye drops can be prescribed for glaucoma problems, and surgery done for cataracts. An eye surgeon can repair retinal problems whether it be detachment or possible torn.

For lens that is out of line, special glasses can be given that help this condition. This is called a refractive pair of glasses that help the lens vision.

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