Marfan Syndrome

Etiology

  • Autosomal dominant connective tissue disorder
  • Mutation in gene coding for Fibrillin, which contributes to the extracellular matrix

Risk Factors

  • Family history

Symptoms

  • Hyper-flexibility
  • Aortic aneurysm (thoracic and abdominal) or dissection, which might be asx/not known until rupture
  • Aortic valve insufficiency
  • SOB or CP related to aortic valve/aorta pathology
  • Osteoporosis w/insufficiency fractures
  • Ectopic lens w/visual changes
  • Osteoporosis w/increased insufficiency fractures

Physical Exam Findings

  • Tall and thin
  • Long limbs
  • Flat feet
  • High arched palate
  • Pectus excavatum or carinatum
  • Thumb extends beyond palm when fingers closed over it
  • Visual decline related to lens dislocation
  • Kyphosis and scoliosis
  • 'Stretch marks' on skin @ sites of stress

Tests

Links