This essay Marfans Syndrome has a total of 744 words and 8 pages.
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 complete family history.
The recent identification of the chromosome, gene and component of connective tissue (fibrillin) in which the mutation for the Marfan syndrome is located offers great
promise for the diagnosis of the condition. It is hoped that as a better understanding of fibrillin is gained, earlier and more accurate diagnosis of the Marfan syndrome will be possible.
People affected by the Marfan syndrome should be treated by a physician familiar with the condition and how it affects all body systems. There is no cure for the disorder yet, but careful medical management can greatly improve the prognosis and lengthen the life span. Every affected person should work closely with his/her physician(s) for his or her customized treatment plan. However, in general, treatment includes the following: An annual echocardiogram to monitor the size and function of the heart and aorta. An Initial eye examination with a slit-lamp to detect lens dislocation, with periodic follow-up with an ophthalmologist. Careful monitoring of the skeletal system, especially during childhood and adolescence. Beta-blocker medications may be prescribed to lower blood pressure and, consequently, reduce stress on the aorta. Antibiotics may be prescribed prior to dental or genito-urinary procedures to reduce the risk of infection in people who experience mitral valve prolapse. Lifestyle adaptations, such as the avoidance of strenuous exercise and contact sports, are often necessary to reduce the risk of injury to the aorta.
A single abnormal gene causes the Marfan syndrome. Usually, this gene is inherited from a parent who is also affected. Approximately one-quarter of the cases occur as a result of a spontaneous mutation. The Marfan syndrome is autosomal
dominant, indicating that someone with the condition has a 50-50 chance that any offspring will inherit it.
Most of the information for this paper was retrieved on the Yahoo.com search engine. Some other sources were The New England Journal of Medicine and the National Marfans page.
Stanford University Center For Marfan Syndrome And Related Connective Tissue Disorders.
March of Dimes Marfan Page
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