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 joints
  • Heart and the aorta, the artery that leads from the heart
  • Lungs
  • Eyes
  • Heart and blood vessels
Causes

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.

Risk Factors

Factors that increase your risk of Marfan Syndrome include:

  • Family members with Marfan syndrome
  • Increased age of parents at the time of a child's birth
Symptoms

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:

Heart and Blood Vessels
  • Abnormalities of the heart valves and blood vessels
  • Weakened or stretched aorta— Can lead to aortic aneurysm

Interior of Heart

Prolapsed mitral valve

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Eyes
Bones
  • Tall slender build
  • Loose joints
  • Unusually long legs, arms, fingers, and toes
  • Crowded teeth
  • Malformed breastbone
  • Curved spine
  • High, arched palate in the mouth
  • Risk for bone thinning in adult life
Back
  • Weakening of the supportive tissue of the spine with age
  • Back pain
Lungs

Lung collapse, rarely

Diagnosis

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 echocardiogram.
  • 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.

Treatment

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
    • Echocardiograms
  • Avoiding strenuous exercise or contact sports as directed by your doctor
  • Heart medications such as beta-blockers— losartan is currently being investigated in aortic aneurysm prevention
  • 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 recommend exercises or medication to relieve pain caused by spinal weakness.

For the Lungs

Avoid smoking.

Prevention

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.