Marfan syndrome is a rare disorder. It causes a defect in the body’s connective tissue. Connective tissue supports and connects many of the body's structures. As a result, Marfan syndrome affects many organ systems, including:
Marfan syndrome is caused by a defect in a gene. The gene controls a protein needed to build connective tissue.
In almost all cases, the defective gene is passed from a parent. In very rare cases, the defect can be caused by a mutation.
Factors that increase your risk of Marfan Syndrome include:
Symptoms of Marfan syndrome range from mild to severe. It can affect one or many parts of the body. Some symptoms may be evident at an early age. Others may develop later in life. Some symptoms may worsen with age.
Symptoms are listed according to parts of the body they affect:
Interior of Heart
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Lung collapse, rarely
Marfan syndrome is difficult to diagnose. There is no specific test for the condition. A physical exam will be done. It will study your medical history and your family's medical history. Other tests that may be done include the following:
If you have Marfan syndrome, your first-degree relatives, such as parents, brothers, and sisters, should be screened for the disorder.
There is no cure. Treatment is aimed at preventing or reducing complications or symptoms.
Treatment may include:
Your doctor may recommend exercises or medication to relieve pain caused by spinal weakness.
American Academy of Family Physicians
The National Marfan Foundation
The College of Family Physicians of Canada
Canadian Marfan Association
About Marfan syndrome. National Marfan Foundation website. Available at: http://www.marfan.org/marfan/2280/About-Marfan-Syndrome . Accessed February 14, 2013.
Marfan syndrome. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed . Updated January 2, 2013. Accessed February 14, 2013.
Moura B, Tubach F, Sulpice M, et al; Multidisciplinary Marfan Syndrome Clinic Group. Bone mineral density in Marfan syndrome. A large case-control study. Joint Bone Spine . 2006 Sep 14
Premedication (antibiotics). American Dental Association website. Available at: http://www.mouthhealthy.org/en/az-topics/p/Premedication-or-Antibiotics.aspx . Accessed February 14, 2013.
Travis J. Medicine. Old drug, new hope for Marfan syndrome. Science . 2006 Apr 7;312(5770):36-37.
Last reviewed March 2013 by Michael Woods, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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