Marfan syndrome is an autosomal dominant disorder of fibrous connective tissue resulting in clinical manifestations in the skeletal, ocular and cardiovascular systems.
Features of Marfan syndrome may include:
- Skeletal
- Increased height
- Reduced arm span to height ratio >1.05
- Scoliosis
- Pectus carinatum or excavatum
- Joint hypermobility
- Occular
- Ectopia lentis
- Myopia
- Cardiovascular
- Aortic dilation
- Mitral valve prolapse
- Other
- Spontaneous pneumothorax
- Lumbrosacral dural ectasia
Classic Marfans is caused by a mutation in the gene FBN1 which encodes fibrillin-1.
Diagnosis is by the extensive Ghent criteria.
Management:
- Beta blockers to slow rate of aortic aneurysm
- Surgery for aortic aneurysm once >5cm
- Avoidance of contact sports
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