Marfans Syndrome

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Term Paper Title	Marfans Syndrome
# of Words	744
# of Pages (250 words per page double spaced)	2.98

Marfans Syndrome

Marfan syndrome is a rare hereditary disorder of connective tissue, which causes connective tissue to be weaker than normal. Connective tissue is the most abundant tissue in the body. It supports and protects various other tissues, is a vital component of all organs in the body, and provides strength and elasticity to blood vessels. Therefore, a disorder of connective tissue can cause a variety of abnormal conditions. For people with the Marfan syndrome, weak connective tissue causes problems of the skin, muscles, ligaments, heart, eyes, blood vessels, and bones. It is estimated that about one in 10,000 people has the Marfan syndrome. This means it affects over 20,000 people in the United States alone. Early diagnosis and treatment allows most individuals to live relatively normal, fulfilling lives, and may prevent more serious problems.
The most serious problems associated with the Marfan syndrome involve the cardiovascular system. The two leaflets of the mitral valve may billow backwards when
the heart contracts (mitral valve prolapse). This can lead to leakage of the mitral valve

or irregular heart rhythm. In addition, the aorta, the main artery carrying blood away from the heart, is generally wider and more fragile in patients with the Marfan syndrome. This widening is progressive and can cause leakage of the aortic valve or tears (dissection) in the aorta wall. When the aorta becomes greatly widened, or tears, surgery is necessary.
Skeletal problems common in people with the Marfan syndrome include curvature of the spine (scoliosis), abnormally shaped chest (pectus deformity), loose jointedness and disproportionate growth usually, but not always, resulting in tall stature. People with the Marfan syndrome are often near-sighted (myopic). In addition, about 50 percent have dislocation of the ocular lens. The Marfan syndrome is difficult to diagnose because there is no specific laboratory test for the condition. In addition, characteristics of the disorder vary greatly among affected individuals. Most affected people do not have all of the possible signs and complications of the syndrome.
An accurate diagnosis of the Marfan syndrome can be assessed after a complete physical examination that focuses on the systems affected by the disorder. This includes an echocardiogram, a sound wave picture of the heart by a cardiologist, slit-lamp eye examination by an ophthalmologist, skeletal examination and a compl...

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