Marfan Syndrome

Topics: Heart, Blood, Genetic disorder Pages: 3 (1017 words) Published: December 15, 2011
Marfan Syndrome
Have you ever wondered about the diseases that you can get from your parents? One of these major diseases that can change someone’s life is called the Marfan Syndrome. Marfan Syndrome is a disorder of connective tissue that is inherited from the parents. The bones and circulatory system are usually the parts of the body that are longer and the ones that are changed because of the disease. There are many things that can cause a disease. Marfan syndrome is caused by a mutation in the fibrillin-1 gene. The gene produces a protein that is essential for formatting the elastic fibers found in connective tissue. About 75 percent of people with Marfan syndrome inherit the mutation from one affected parent. A parent who has Marfan syndrome has a 50 percent chance of passing the disease on to his or her child. Two unaffected parents have a 1 in 10,000 chance of having a child with Marfan syndrome. About 25 percent of Marfan syndrome cases result from a new mutation in the gene. Marfan syndrome affects different people in different ways. Some people have only mild symptoms such as their body and bones being longer. On the other hand, other people are more severely affected because it affects their vital organ(s) or organ system(s). The body systems most often affected by Marfan syndrome are the Skeleton, Eyes, Heart and blood vessels, Nervous system, Skin, and the Lungs. However, in most cases, the more someone ages, the more the Marfan syndrome symptoms will progress. So because of this the person will not relieve that they have the disease. The life of someone with Marfan Syndrome is very different than someone with no disease. One of the most important things is to avoid putting extra stress on the heart. That means avoiding any sport where there's a lot of running, physical contact, muscle straining, or the chance of getting hit in the chest. Some examples would be things like basketball, football, baseball, gymnastics, weightlifting, and track....
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