Marfan syndrome
Background
- Hereditary connective tissue disorder
- Caused by autosomal-dominant mutation in fibrillin gene (FBN1)
- 75% of cases are autosomal dominant with different features among family members
- 25% mutations occur spontaneously, though may be associated with older paternal age
Clinical Features
- Tall stature, long extremities and digits, scoliosis, pectus excavatum
- Ligamentous laxity, hyperextensibility
- Myopia due to lens dislocation
- Dural ectasia (low back pain, paresthesias/numbness, bowel/bladder dysfunction)
- Mitral valve prolapse (~85%), mitral regurgitation
- High arched palate
Increased risk of:
- Aortic dissection that begin at the root of the aorta
- Even higher risk in pregnancy
- Aortic regurgitation
- Severe mitral regurgitation: elongated chordae tendinae can occasionally rupture
- Subarachnoid hemorrhage
- Spontaneous pneumothorax
- Cervical spine injury (due to ligamentous laxity)
- Lens dislocation, retinal detachment
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