Marfan's syndrome

• Facts:
  Autosomal dominant
  Defects in fibrillin-1 (FBN) gene
• History / PE:
  Ligamentous laxity of joints
  Long thin digits
  Blood vessel fragility
  Upward dislocation of the lens
  Pectus excavatum
• Complications:
  Aortic dissection (hear early diastolic murmur as dissection causes AR)
• See Also:
  Ehlers-Danlos syndrome
• Associated With:
  Spontaneous pneumothorax
  Mitral valve prolapse
  Retinal detachment
  Aortic root dilation
• Differential Diagnosis:
  Homocystinuria ( Marfan's syndrome + mental retardation + thromboembolic events (strokes) + downward dislocation of the lens)