Marfan syndrome: Difference between revisions
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==Background== | ==Background== | ||
*Hereditary [[connective tissue disorder]] | *Hereditary [[connective tissue disorder]] | ||
**Caused by autosomal-dominant mutation in fibrillin gene | **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== | ==Clinical Features== | ||
*Tall stature, long extremities and digits, scoliosis, pectus excavatum | *Tall stature, long extremities and digits, scoliosis, pectus excavatum | ||
*Ligamentous laxity, hyperextensibility | *Ligamentous laxity, hyperextensibility | ||
*Myopia | *Myopia due to lens dislocation | ||
*Dural ectasia (low [[back pain]], paresthesias/numbness, bowel/bladder dysfunction) | *Dural ectasia (low [[back pain]], paresthesias/numbness, bowel/bladder dysfunction) | ||
*[[Mitral valve prolapse]] (~85%), [[mitral regurgitation]] | *[[Mitral valve prolapse]] (~85%), [[mitral regurgitation]] | ||
*High arched palate | |||
'''Increased risk of:''' | '''Increased risk of:''' | ||
*[[Aortic dissection]] | *[[Aortic dissection]] that begin at the root of the aorta | ||
**Even higher risk in pregnancy | **Even higher risk in pregnancy | ||
*[[Aortic regurgitation]] | *[[Aortic regurgitation]] | ||
Revision as of 21:23, 24 August 2017
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