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 jointsHeart and the aorta, which is the artery that leads from the heartLungsEyes
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 rare cases, the defect can be caused by a mutation.
Factors that increase your risk of Marfan syndrome include: Family members with Marfan syndromeIncreased age of parents at the time of a child's birth
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 rhythmVisual difficulties, including nearsightedness and vision lossProblems with bones, including loose joints, curved spine, and long limbsTall, thin bodyBack painBreathing problems
Interior of Heart
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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:
You may need to have your heart examined. This can be done with an
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:
Regular monitoring of the heart and aorta with:
Regular check-upsEchocardiogramsAvoiding strenuous exercise or contact sports as directed by your doctorHeart medications such as beta-blockersClose monitoring of pregnant women with Marfan syndromeSurgery to repair or replace a defective heart valve or aorta
Regular eye exams to check for eye problemsEyeglasses or contact lenses to correct myopia or problems with the eye lensEye surgery for severe problems
Regular physical exams to monitor for bone problems, especially during adolescenceOrthopedic brace or surgery in severe cases
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.
Moura B, Tubach F, et al; Multidisciplinary Marfan Syndrome Clinic Group. Bone mineral density in Marfan syndrome. A large case-control study.
Joint Bone Spine. 2006 Sep 14
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.
Travis J. Medicine. Old drug, new hope for Marfan syndrome.
Science. 2006 Apr 7;312(5770):36-37.
What is Marfan syndrome? National Marfan Foundation website. Available at:
http://www.marfan.org/about/marfan. Accessed June 16, 2015.
Last reviewed June 2016 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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