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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. Marfan syndrome is an autosomal dominant condition, which means that a defective gene from only one parent is needed to pass the disease on. It also means that each child of an affected parent has a 50-50 chance of inheriting the defective gene.
- Questions and Answers about Marfan Syndrome. National Institute of Arthritis and Musculoskeletal and Skin Diseases. http://www.niams.nih.gov/health_info/marfan_syndrome/default.asp. Accessed June 1, 2010.
- Wright MJ. The Marfan syndrome. http://www.uptodate.com/home/index.html. Accessed June 1, 2010.
- Hiratzka LF, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease: Executive summary. Journal of the American College of Cardiology. 2010;55:e27. Accessed June 1, 2010.
- Keane MG, et al. Medical Management of Marfan Syndrome. Circulation. 2008;117:2802.
- Pyeritz RE. Marfan syndrome: 30 years of research equals 30 years of additional life expectancy. Heart. 2009;95:173.
- Children and teens. National Marfan Foundation. http://www.marfan.org/marfan/2493/Children-and-Teens. Accessed June 1, 2010.
- Glaucoma: What you should know. National Eye Institute. http://www.nei.nih.gov/health/glaucoma/glaucoma_facts.asp. Accessed June 1, 2010.
- Facts about retinal detachment. National Eye Institute. http://www.nei.nih.gov/health/retinaldetach/retinaldetach.asp. Accessed June 1, 2010.
- Grogan M (expert opinion). Mayo Clinic, Rochester, Minn. June 4, 2010.
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