Marfan syndrome: Difference between revisions
ClaireLewis (talk | contribs) (Created page with "==Background== *Hereditary connective tissue disorder **Caused by autosomal-dominant mutation in fibrillin gene ==Clinical Features== *Tall stature, long extremities and...") |
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*Myopia | *Myopia | ||
*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 | *[[Mitral valve prolapse]] (~85%), [[mitral regurgitation]] | ||
'''Increased risk of:''' | '''Increased risk of:''' | ||
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**Even higher risk in pregnancy | **Even higher risk in pregnancy | ||
*[[Aortic regurgitation]] | *[[Aortic regurgitation]] | ||
*Severe [[mitral | *Severe [[mitral regurgitation]]: elongated chordae tendinae can occasionally rupture | ||
*[[Subarachnoid hemorrhage]] | *[[Subarachnoid hemorrhage]] | ||
*[[Spontaneous pneumothorax]] | *[[Spontaneous pneumothorax]] | ||
Revision as of 22:26, 9 November 2016
Background
- Hereditary connective tissue disorder
- Caused by autosomal-dominant mutation in fibrillin gene
Clinical Features
- Tall stature, long extremities and digits, scoliosis, pectus excavatum
- Ligamentous laxity, hyperextensibility
- Myopia
- Dural ectasia (low back pain, paresthesias/numbness, bowel/bladder dysfunction)
- Mitral valve prolapse (~85%), mitral regurgitation
Increased risk of:
- Aortic dissection
- 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