Megan+Tessier


 * MARFAN'S SYNDROME **


 * What is it? **

** *FBN1- Glycoprotein that is essential for formation of elastic fibers or microfibril that provides strength and flexibility to the tissue. (Found in aorta, ligaments that holds eye lenses in place, and the bones and lungs) **
 * - Genetic disorder caused by a mutation in the Fibrillin gene ( ** * ** FBN1) associated with chromosome 15 (About 600 different mutations in the gene). **
 * - The misshapen Fibrillin produced from the mutated gene weakens tissues in the body. **
 * - 1 in 5,000 people are diagnosed **
 * - Problems with the Aorta is a huge problem in people with this syndrome. **


 * __ Symptoms __**
 * Some of the symptoms of Marfans' Syndrome include: **
 * - weak connective tissues in heart, skeletal system, eyes, and other organs **
 * - tall and thin build/ flexible **
 * - enlarged aorta **
 * - curved spine **
 * - dislocated eye lenses **
 * - crowded teeth **
 * - chest that sticks out / sinks in **
 * Inheritance **
 * - 3 in 4 people with disease inherit from a parent **
 * - mother or father can pass to child **
 * - effects all ethnic groups equally **


 * 50% chance of receiving disorder if a parent has the mutated gene **
 * Common Treatment **


 * No cure for Marfan's Syndrome but some treatments can help reduce pain **
 * - Arota can be monitored for weakness **
 * - Drugs can help reduce stress **
 * - Surgery may be needed to replace the vessel to prevent rupture **


 * Testing/ Screening **
 * Physicians familiar with the disorder make a diagnosis base on coexsistence of several features. **
 * - No DNA based tests (Every family has their own unique mutation in FBN1 gene) **
 * - Genetic tests can't tell you if you have the disorder because there are other disorders dealing with connective tissues. **


 * Chest X-ray - **
 * Electrocardiogram(ECG) -- Evaluate changes in the heart and blood vessel and heart rhythm **
 * Echo cardiogram -- **




 * Beta Blockers - Lowers blood pressure and reduces rupture on blood vessels **


 * MRI/ CT Scan- use if sections of arota aren't visual/ to check back difficulties **
 * Slit Lamp Exam- dislocated lenses **
 * Other Facts **
 * - Marfans worse with age, especially after the age of 30 **
 * - death risk of about 2% ( 20 to 40 times higher than a person without the disease). **
 * - Many people thought Abraham Lincoln had Marfans Syndrome, but no tests were proven he actually had it. ** ** - echo cardiograms at least once a year **

**Works Cited** Karen, Gripp. "Marfan Syndrome." // Kid's Health //. The Nemours Foundation, n.d. Web. 11 Feb 2013.  "Heart Disease and Marfan Syndrome ." // Webmd //. Webmd, n.d. Web. 11 Feb 2013. . "Marfan Syndrome." // Your Genes Your Health //. Josiah Macy, Jr, Foundation. Web. 11 Feb 2013.  Vaidyanathan, Balu. "Role of beta-blockers in Marfan's syndrome and bicuspid aortic valve: A time for re-appraisal." // Annals of Pediatric Cardiology //. Medknow, 20 Apr 2008. Web. 11 Feb 2013. 