Marfan Syndrome Essay
Marfan 's Syndrome is a heritable disorder of the connective tissue. It affects many body systems, like the lungs, skeleton, heart, eyes, and arteries. These parts affected may sound like they are unrelated but they are all affected by a mutation in a single gene on Chromosome 15. This gene is named FBN1 for the protein it encodes, fibrillin-1. What causes this mutation is the amino acids that builds proteins mix up a certain code on each protein and it makes the wrong amino acids that are put on the proteins. Marfan’s Syndrome can be inherited if one of the parents is affected but only ¼ of the case are from spontaneous mutations.
The most serious problem that Marfan syndrome can cause involve the cardiovascular system. The two flaps in the
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People with the Marfan syndrome are also often farsighted.
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 will include an echocardiogram, a sound wave picture of the heart by a cardiologist, a slit-lamp eye examination by an ophthalmologist, a skeletal examination by an orthopedist, and a complete family history.
The identification in 1991 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
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