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Causes

By Mayo Clinic staff

Marfan syndrome is caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength.

Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder. Each child of an affected parent has a 50-50 chance of inheriting the defective gene. In about 25 percent of the people who have Marfan syndrome, the abnormal gene doesn't come from either parent. In these cases, a new mutation develops spontaneously.

Risk factors Symptoms
References
  1. Questions and answers about Marfan syndrome. National Institute of Arthritis and Musculoskeletal and Skin Diseases. http://www.niams.nih.gov/health_info/marfan_syndrome. Accessed Nov. 27, 2012.
  2. Wright MJ, et al. Genetics, clinical features and diagnosis of Marfan syndrome and related disorders. http://www.uptodate.com/index. Accessed Nov. 27, 2012.
  3. Kliegman RM, et al. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa.: Saunders Elsevier; 2011. http://www.mdconsult.com/das/book/body/208746819-6/0/1608/0.html. Accessed Nov. 27, 2012.
  4. Goldman L, et al. Cecil Medicine. 24th ed. Philadelphia, Pa.: Saunders Elsevier; 2012. http://www.mdconsult.com/das/book/body/191371208-2/0/1492/0.html#. Accessed Nov. 27, 2012.
  5. Wright MJ, et al. Management of Marfan syndrome and related disorders. http://www.uptodate.com/index. Accessed Nov. 27, 2012.
  6. AskMayoExpert. Marfan syndrome. Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2012.
  7. Ferri FF. Ferri's Clinical Advisor 2013: 5 Books in 1. Philadelphia, Pa.: Mosby Elsevier; 2012. http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-0-323-08373-7..00002-9&isbn=978-0-323-08373-7&about=true&uniqId=343863096-23. Accessed Nov. 27, 2012.
  8. Bowen JM (expert opinion). Mayo Clinic, Rochester, Minn. Jan. 7, 2013.
  9. Wright MJ, et al. Pregnancy and Marfan syndrome. http://www.uptodate.com/index. Accessed Nov. 29, 2012.
  10. Fuster V, ed. et al. Hurst's The Heart. 13th ed. New York, N.Y.: The McGraw-Hill Companies; 2011. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=5. Accessed Nov. 29, 2012.
  11. Goldsmith LA, et al., eds. Fitzpatrick's Dermatology in General Medicine. 8th ed. New York, N.Y.: The McGraw-Hill Companies; 2012. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=740. Accessed Nov. 29, 2012.
  12. Living with Marfan syndrome: Children and teens. National Marfan Foundation. http://www.marfan.org/marfan/2493/Children-and-Teens. Accessed Nov. 29, 2012.
DS00540 Feb. 1, 2013

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