Marfan's syndrome
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 Marfans
- 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 coplications).
Clinical
- 80% present with aortic incimpetence.
- Associated pulmonary or mitral valve incompetence (root dilalation again) in >50%.
- Widened arm span, disproportionately long limbs and fingers, narrow skull
- Scoliosis (e.g. with pectus excavatum) common
- Recorrent hernias (skin laxity).
- Spontaneous PTX (and reduced total lung capacity).
- Lens dislocation (in over 1/2) or severe myopia.
