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Marfan Syndrome

Marfan syndrome is a genetic disorder that affects the body’s connective tissues. Connective tissues consist of various types of proteins. These proteins, such as fibrillin, support the body’s skin, bone, blood vessels and organs. Marfan syndrome is caused by a problem with the fibrillin gene, known as FBN1.

Internet Resources

MedlinePlus: Marfan syndrome
Developed by the National Library of Medicine specifically for consumers, this site is a portal for both government-sponsored and privately developed health information. The entry on Marfan syndrome provides information regarding symptoms, diagnosis, treatment, and research.

Genetics Home Reference: Marfan syndrome
The National Library of Medicine’s Genetics Home Reference provides information concerning genetic differences found in human beings. Included is information on FBN1, the mutated gene causing Marfan syndrome.

National Human Genome Research Institute: Marfan syndrome
The National Human Genome Research Institute is part of the National Institutes of Health and was founded in association with the International Human Genome Project. The website provides information on genetic disorders, including Marfan syndrome.

Northwestern Memorial Hospital: Marfan syndrome
Northwestern Memorial Hospital’s website features information on The Marfan Syndrome and Related Disorders Clinic at the Bluhm Cardiovascular Institute of Northwestern Memorial Hospital.


  • Marfan Syndrome. Fundukian J. Gale Encyclopedia of Genetic Disorders, 3rd ed. v.2: 941-947. 2010
  • Marfan Syndrome. Gunder L. Essentials of Medical Genetics for Health Professionals. 147-153. 2011
  • Marfan Syndrome. Firth H. Oxford Desk Reference Clinical Genetics. 380-383. 2005
  • Marfan Syndrome. Knight J. Salem Health Genetics & Inherited Conditions. 775-778. 2010


  • Evaluation of the adolescent adult with some features of Marfan syndrome. Genetics in Medicine. 14(1):171-7. Jan. 2012
  • Frequency of reoperations in patients with Marfan syndrome. Annals of Thoracic Surgery. 93(5):1496-501. May 2012
  • Surgical management of patients with Marfan syndrome: evolution throughout the years. Archives of Cardiovascular Diseases. 105(2):84-90. Feb. 2012


National Marfan Foundation
Contact the National Marfan Foundation at 1- 800-8-MARFAN. You can use the “Ask a Question” section of their website to inquire about various issues concerning the condition. This web site contains a great deal of helpful information, including a link to a listing of current studies, and information on conditions associated with Marfan that require emergency care.

Contact Us

For more information, please contact the Health Learning Center at 312-926-5465 or HLC@nmh.org.

Last UpdateJuly 25, 2012