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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.

  • Patient has long, thin arms, legs, fingers, and toes.
  • Chest wall protrudes
  • Reduced vision and severe near-sightedness
  • Mitral valve prolapse
  • Aortic aneurysms (a bulge in the wall or the aorta, resembling a weak spot that bulges in an imperfect automobile tire) -- can have no symptoms; or might have fatigue, lightheadedness, and/or chest pain.  Death may occur if the aneurysm ruptures.
  • Aortic Dissection (a torn area between the layers of the aortic wall, allowing blood to seep between the layers of the wall) -- can cause chest pain, tearing/ripping back pain, or death
  • Aortic Regurgitation -- chest pain, shortness of breath
  • Spontaneous Pneumothorax -- Collapsed Lungs may occur (severe, sudden shortness of breath)

  • Mutations may be seen in chromosome 15, but no single test establishes the diagnosis.
  • Echocardiogram is performed to evaluate the patient's chest for an aortic aneurysm.
  • See section on Aortic Dissection for work up and management.
  • Ophthalmologic evaluation reveals 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 the mitral valve, the aortic valve, and to check for aortic root dilation.  Aortic root will need surgical replacement with an artificial composite graft if the diameter reaches 50-55 millimeters (normal is less than 40 mm).
  • Beta-blocker medications (e.g., atenolol) reduces aortic root dilation

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

  • Special information:

- Patients with Marfan's Syndrome should have antibiotic prophylaxis for anticipated medical procedures, to prevent endocarditis.  This includes dental, respiratory, esophageal, gastrointestinal, and genitourinary procedures.

 





more about Marfan's Syndrome


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