Difference between revisions of "Marfan syndrome"

(Clinical Features)
Line 1: Line 1:
 
==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: