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Marfan Syndrome Essay

1261 words - 6 pages

Marfan syndrome is a heritable condition that affects the connective tissue of the heart. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs. Marfan syndrome affects men, woman, and children, and has been found among people of all races and ethnic backgrounds. It is estimated that at least 1 in 5,000 people in the United States have this ...view middle of the document...

The doctor relies only on his observation and a complete medical history. This medical history includes information about any family members who may have had the disorder or who have and early, unexpected heart-related death, a thorough physical examination, and eye examination, and heart tests such as a echocardiogram.
The doctor may diagnose Marfan syndrome if the patient has a family history of the disease and there are specific problems in at least two of the body systems known to be affected. For a patient with no family history of the disease, at least three body systems must be affected before a diagnosis is made. Moreover, two of the systems must show clear signs that are relatively specific for Marfan syndrome. In some cases, a genetic analysis may be useful, but such analyses are often time consuming and may not provide any additional helpful information.
Currently, there is no cure for Marfan syndrome. To develop one, scientists would have to identify and change the specific gene responsible for the disorder before birth. However, a range of treatment options can minimize and sometimes prevent complications. The appropriate specialists will develop an individualized treatment program; the approach the doctor uses depends on which systems have been affected.
When the problem is within the heart and blood vessels regular checkups and echocardiograms help the doctor evaluate the size of the aorta and the way the heart is working. The earlier a potential problem is identified and treated, the loser the risk of life-threatening complications. Those with heart problems are encouraged to wear a medical alert bracelet and to go to the emergency room if they experience chest, back, or abdominal pain. Some heart valve problems can be manages with drugs such as beta-blockers, which may help decrease stress on the aorta. In other cases, surgery to replace a valve or repair the aorta may be necessary. Surgery should be performed before the aorta reaches a size that puts it at a high risk for tear or rupture. Following heart surgery, extreme care must be followed to prevent endocarditis, or inflammation of the lining of the heart cavity and valves. Dentists should be alerted to this risk; they are likely to recommend that the patient be prescribed protective medications before they perform dental work.
Surgery involves a replacement of the dilated portion of the aorta with a graft. There are two techniques for doing this. The first is the traditional method that involves replacing the aorta with a graft and the aortic valve with a mechanical valve. And the second is the valve sparing method, this involves replacing the aorta with a tube graft and reimplaning the native valves. The video I viewed was the traditional method.
Using the...

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