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:
- Skeleton, especially the joints
- Heart and the aorta, which is the artery that leads from the heart
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:
- Family members with Marfan syndrome
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:
- Irregular heart rhythm
- Visual difficulties, including nearsightedness and vision loss
- Problems with bones, including loose joints, curved spine, and long limbs
- Tall, thin body
- Back pain
- Breathing problems
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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:
- You may need to have your heart examined. This can be done with an echocardiogram.
- You will need to have a complete eye exam.
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:
For the Heart and Blood Vessels
Regular monitoring of the heart and aorta with:
- Regular check-ups
- Avoiding strenuous exercise or contact sports as directed by your doctor
- Heart medications such as beta-blockers
- Close monitoring of pregnant women with Marfan syndrome
- Surgery to repair or replace a defective heart valve or aorta
For the Eyes
- Regular eye exams to check for eye problems
- Eyeglasses or contact lenses to correct myopia or problems with the eye lens
- Eye surgery for severe problems
For the Bones
- Regular physical exams to monitor for bone problems, especially during adolescence
- Orthopedic brace or surgery in severe cases
For the Back
Your doctor may advise exercises or medication to relieve pain caused by spinal weakness.
For the Lungs
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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Last reviewed May 2018 by Michael Woods, MD Last Updated: 11/17/2017