Marfain Syndrome: Causes and Effects

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  • Topic: Marfan syndrome, Aorta, Aortic dissection
  • Pages : 3 (970 words )
  • Download(s) : 289
  • Published : June 13, 2012
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Antoine Marfan (1858-1942) was a French physician who became interested in pediatrics when he deputized for a colleague at Paris's Hospital for Sick Children in the late 1800s. It was in the course of his clinical studies in 1896 that he described the main features of a syndrome that later was given his name. Later observers noted that Marfan's patients are often tall and thin, with a long and narrow face, and may have a curved spine and a protruding or sunken breastbone. Most serious, it was found that the heart valves in Marfan's patients tend to leak, and the aorta--the body's largest artery--tends to enlarge and may suddenly and fatally burst. Marfan syndrome is an inherited disorder that affects connective tissue, which supports your organs and other structures in your body. Because connective tissue is such an important part of your body, Marfan syndrome may disrupt development and function in several sites. Most common are your heart, eyes, blood vessels and skeleton. People with Marfan syndrome are usually tall and thin with disproportionately long arms, legs, fingers and toes. Marfan syndrome is caused by a dominant gene, which means one of your parents also has the gene and passed it to you. The severity of the disease will vary depending on the type of mutation, which affects the production of a protein call fibrillin. As a result, individuals with the syndrome apparently have insufficient amounts tiny fibers, which are needed to provide strength and elasticity to normal connective tissue. Marfan's patients must be regularly monitored via echocardiography to check the size of the aorta and may need to be medicated with beta blockers, which reduce stress on the aorta by lowering the heart rate and contraction strength. People at highest risk for Marfan syndrome are those who have a family history of the condition. If you have Marfan syndrome, each of your children has a 50 percent chance of having the altered gene that causes the condition. Marfan...
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