Marfan's syndrome



Background

  • Autosomal dominant (FBN1 gene) connective tissue disorder
  • Aortic root dilation (stretches the aortic valve annulus so cause AV incompetence).
  • Surgery indicated if aortic root (MRI confirmation) > 5cm
  • May present with spontaneous PTX (apical bleb rupture)
  • Scoliosis (early)
  • Similar to Ehlers-Danlos syndrome (mitral valve rather that aortic valve complications)

Clinical

  • 80% present with aortic incompetence
  • Associated pulmonary or mitral valve incompetence (root dilatation again) in >50%
  • Widened arm span, disproportionately long limbs and fingers, narrow skull
  • Scoliosis (e.g. with pectus excavatum) common
  • Recurrent hernias (skin laxity)
  • Spontaneous PTX (and reduced total lung capacity)
  • Lens dislocation (in over 1/2) or severe myopia

Revised Ghent criteria (2010)

Any one = Marfan's

  1. Aortic root dilation and ectopia lentis
  2. Aortic root dilation and FBN1 gene
  3. Aortic root dilation and a systemic score
  4. Ectopia lentis and an FBN1 mutation
  5. Ectopia lentis and FHx of above
  6. Systemic score of 7 and +FHx above
  7. High Aortic root dilation score FHx Marfan’s

Content by Dr Íomhar O' Sullivan 05/10/2011. Last review Dr IOS 3/02/21.