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
- Aortic root dilation and ectopia lentis
- Aortic root dilation and FBN1 gene
- Aortic root dilation and a systemic score
- Ectopia lentis and an FBN1 mutation
- Ectopia lentis and FHx of above
- Systemic score of 7 and +FHx above
- High Aortic root dilation score FHx Marfan’s