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Marfan Syndrome

Marfan Syndrome . By: …….. . Cause. Caused by a mutation in the FBN1 gene that determines the structure of fibrillin

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Marfan Syndrome

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  1. Marfan Syndrome By: ……..

  2. Cause • Caused by a mutation in the FBN1 gene that determines the structure of fibrillin • Fibrillin is a protein that is an important part of connective tissue and elastic fibers which affect multiple parts of the body such as bones, joints, eyes, blood vessels, and heart

  3. Symptoms • Long and skinny arms ands legs leading to the arm span being longer than height, nearsighted, dislocation of one or both lenses of the eye, super arched mouth which leads to very crowded front teeth, intruding chest bone, weak hearts, pain in the abdomen…

  4. More Symptoms • Weak legs, increased risk of hernia, flat feet, scoliosis, long and skinny fingers and toes, stretch marks, swollen and stretched air sacks in the lungs which increases the risk of lung collapse, defective heart valve between the left chambers of the heart, and they may have loose joints

  5. Who is Likely to have this disease? • Marfan Syndrome is an inherited disease and can affect men and woman of any race or origin • There are some very serious cases but most are much more mild • 1 in 10 affected cases are serious • Our president Abe Lincoln was suspected of having this disease

  6. Frequency • About 200,000 thousand people in the US have Marfan Syndrome • Each child of a person who has Marfan syndrome has a 50% chance of inheriting the disease • Two unaffected parents have only a 1 in 10,000 chance of having a child with Marfan syndrome • About 25% of all Marfan cases are due to a spontaneous mutation at the time of conception

  7. When is it detected? • Marfan Syndrome can be detected during childhood but not though a simple blood test • Mutliple doctors are needed to look for symptoms, at least three must be found in order for the person to be given treatment for Marfan Syndrome

  8. Prevention • Prevention of Marfan Syndrome is not possible because it is an inherited genetic disorder that affects the connective tissue

  9. Treatment • Beta blockers have now been used to control some of the heart symptoms of Marfan Syndrome • Propranolol is also being used to help prevent aortic aneurysms • Regular visits to the doctor are a must to make sure • There is no cure for Marfan Syndrome but there are some treatments to help improve the quality of life

  10. Life Expectancy • For woman, life expectancy has risen from 49 to 74 years • For men, life expectancy has risen from 41 to 70 years in the last 32 years • This life expectancy of Marfan patients is now about that of and average person, this has grown because there is currently better treatment for Marfan Syndrome

  11. Current Outlook • People with Marfan Syndrome can now basically live a normal life because of early diagnosis and treatment • Early identification of this disease allows doctors to prevent some problems, delay them, and treat them properly

  12. Bibliography • http://www.ctds.info/fibrillin.html#environmental2 • http://www.marchofdimes.com/professionals/681_1216.asp • www.hughston.com/hha/a_12_2_4.htm • http://www.umd.necker.fr/Site%20Marfan/01AHOME%20PAGE.html • http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=4#

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