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 the:
Marfan syndrome is caused by a defect in a gene. The gene controls a protein needed to build connective tissue.
The defective gene is inherited from a parent.
Factors that increase your risk of Marfan syndrome include:
Symptoms of Marfan syndrome range from mild to severe. It can affect 1 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 depend on the parts of the body affected by Marfan syndrome:
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Marfan syndrome is difficult to diagnose. There is no specific test for the condition. A physical exam will be done, your medical history and your family's medical history will be reviewed. 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 advise exercises or medication to relieve pain caused by spinal weakness.
If you smoke, talk to your doctor about ways to quit.
There are no guidelines for preventing Marfan syndrome. You can contact a genetic counselor to determine the risk of passing the condition on to your child.
Family Doctor—American Academy of Family Physicians
National Marfan Foundation
College of Family Physicians of Canada
Canadian Marfan Association
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Antibiotic prophylaxis for heart patients. Mouth Healthy—American Dental Association website. Available at: http://www.mouthhealthy.org/en/az-topics/a/premedication-or-antibiotics. Updated June 2016. Accessed June 16, 2016.
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What is Marfan syndrome? National Marfan Foundation website. Available at: http://www.marfan.org/about/marfan. Accessed June 16, 2015.
Last reviewed May 2018 by Michael Woods, MD Last Updated: 11/17/2017