Marfan Syndrome

Marfan syndrome is a rare disorder. It causes a defect in the body’s connective tissue. This tissue is common throughout the body. It holds the body together and supports many of its structures. As a result Marfan syndrome affects many organ systems, including:

• Skeleton—particularly joints
• Lungs
• Eyes
• Heart 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.

Risk Factors

Factors that increase your risk of Marfan Syndrome include:

• Family members with Marfan syndrome (the child of a person with Marfan syndrome has a 50% chance of inheriting the condition)
• Advanced 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
  • Mitral valve prolapse —can lead to leakage of the mitral valve or irregular heart rhythm.
• Weakened or stretched aorta, the artery that leads from the heart
  • Can lead to aortic aneurysm

Interior of Heart

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Eyes

• Dislocated eye lenses
• Myopia (nearsightednesss)—sometimes severe
• Glaucoma
• Cataracts
• Detached retina

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 ( osteoporosis) in adult life

Back

• Weakening of the supportive tissue of the spine with age
• Back pain

Lungs

• Lung collapse (rare)

Diagnosis

Marfan syndrome is difficult to diagnose. There is no specific test for the condition. A doctor can diagnose Marfan syndrome by:

• Observing the symptoms
• Performing a complete physical exam
• Carefully studying your medical history and your family's medical history
• Performing tests such as:
  • Echocardiogram —a test that uses high-frequency sound waves to examine the size, shape, and motion of the heart
  • Complete eye examination

• Your first-degree relatives (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
• Avoidance of 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
• Particularly close monitoring of pregnant women with Marfan syndrome
• Surgery to repair or replace a defective heart valve or aorta

For the Eyes

• Regular eye examinations 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

• 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.