Marfan Syndrome

Marfan Syndrome is a rare connective tissue disorder. Connective tissues hold other body tissues together and provide support for many structures in the body. In Marfan Syndrome there is something wrong with the chemical make-up of the connective tissue. This can result in problems with the eyes, blood vessels, heart, spine, and lungs.

Causes

Marfan Syndrome is caused by a defect in the gene that controls a protein important for the development of connective tissue. In almost all cases, the defective gene is inherited. In very rare cases, the defect can be caused by a mutation during the formation of sperm or egg cells.

Risk Factors

A risk factor is something that increases your chance of getting a disease or condition.
  • 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 can range from mild to severe and can affect one or many parts of the body. Some symptoms may be evident at an early age and 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, the artery that leads from the heart
Eyes
  • Dislocated eye lenses
  • Myopia (near-sightedness), sometimes severe
  • Glaucoma
  • Cataracts
  • Detachment of the retina, or part of the eye that is responsible for vision
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
Back
  • Weakening of the supportive tissue of the spine with age
  • Back pain
Lungs
  • Lung collapse (rare)

Diagnosis

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 (ultrasound) to examine the size, shape, and motion of the heart
    • Complete eye examination

Treatment

There is no cure for Marfan Syndrome. 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 check-ups or echocardiograms
  • Avoidance of strenuous exercise or contact sports as directed by your doctor
  • Preventive antibiotics before medical procedures or dental cleaning for patients with valvular or aortic problems
  • Heart medications such as beta-blockers
  • 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