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: Skeleton—particularly jointsHeart and the aorta, the artery that leads from the heartLungsEyesHeart and blood vessels
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: 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 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:
Abnormalities of the heart valves and blood vessels
Mitral valve prolapse
—can lead to leakage of the mitral valve
Irregular heart rhythm
Weakened or stretched aorta—
Can lead to
Interior of Heart
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Tall slender buildLoose jointsUnusually long legs, arms, fingers, and toesCrowded teethMalformed breastboneCurved spineHigh, arched palate in the mouthRisk for bone thinning in adult life
Weakening of the supportive tissue of the spine with ageBack pain
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
You may 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-blockers—
is currently being investigated in aortic aneurysm preventionClose 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 recommend exercises or medication to relieve pain caused by spinal weakness.
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.