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Marfan's Syndrome

more about Marfan's Syndrome


  • Marfan's syndrome is an inherited (autosomal dominant) disorder, caused by a defective gene involved with the production of fibrillin.  Fibrillin makes up part of connective tissue in the body, such as the blood vessels, eye lenses, and ligaments.

  • Tall and slender at birth; this growth pattern persists through childhood.
  • Failure to Thrive
  • Decreased muscle tone
  • Motor delay
  • Neonatal or infantile form:
    1. More severe than in older children
    2. Joint dislocation, flexion contractures
    3. Abnormalities with the heart and blood vessels, such as mitral valve prolapse, aortic valve dilation
  • Older patients:
    1. A long, narrow face, and dental crowding
    2. Eye abnormalities: dislocation of one or both lenses of the eye, severe Nearsightedness
    3. Skeletal malformation

      • Disproportionately long and thin arms, legs, fingers, and toes
      • Loose joints
      • Protruding or indented sternum (breastbone)
      • Curvature of the spine (scoliosis), and Flat Feet

    4. Increased risk of spontaneous pneumothorax -- collapsed lungs may occur (severe, sudden shortness of breath)
    5. Abnormalities of the heart and blood vessels, such as mitral valve prolapse, aortic valve dilation

      • Aortic regurgitation -- chest pain, shortness of breath
      • Aortic aneurysms -- can have no symptoms or cause fatigue, lightheadedness, chest pain, and death if ruptured.11.
      • Aortic dissection -- can cause chest pain, tearing/ripping back pain, or death

    6. Spontaneous pneumothorax -- collapsed lungs may occur (severe, sudden shortness of breath)

  • A family history of the disease
  • Mutations may be seen in chromosome 15, but no single test establishes the diagnosis.
  • Physical examination such as measuring the ratio of arm/leg size to trunk size.
  • Echocardiogram is performed to evaluate for an aortic aneurysm, mitral valve prolapse, mitral regurgitation, or aortic regurgitation.
  • See section on aortic dissection for work up and management.
  • Ophthalmologic evaluation and slit lamp examination reveal lens dislocation and severe near-sightedness.

  • Regular ophthalmologic examinations
  • Yearly orthopedic evaluations due to tendency to develop scoliosis (curvature of the spine)
  • Yearly echocardiogram to evaluate for mitral valve, aortic valve, and check for aortic root dilation.  Aortic root will need surgical replacement with an artificial composite graft if the diameter reaches 50-55 mm (normal < 40 mm).
  • Beta-blocker medications (e.g., atenolol) reduce aortic root dilation
  • Moderate physical activity such as swimming, bicycling
  • Bacterial endocarditis prophylaxis

  • The life expectancy in children with Marfan's syndrome is shorter than for the general population.
  • Early diagnosis and appropriate treatment improve the quality of life for children with Marfan's syndrome and lengthen their life expectancy.

  • Please see your physician as soon as possible.  Untreated, patients with Marfan's syndrome commonly die in their 30s or 40s.  If you or your children have any symptoms of aortic aneurysm, aortic dissection, or spontaneous pneumothorax -- seek immediate emergency medical treatment.

  • Special Consideration:
  • Patients with Marfan's syndrome should have antibiotic prophylaxis to prevent endocarditis.  This includes dental, respiratory, esophageal, gastrointestinal, and genitourinary procedures.

more about Marfan's Syndrome

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