Difference between revisions of "Marfan syndrome"

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Features - memory device ''MARFAN'':
Features - memory device ''MARFAN'':
*Mitral valve prolapse.
*Mitral valve prolapse.
*Aortic aneurysm.
*Arachnodactyly (long slender fingers & toes) and other skeletal abnormalities (e.g. pectus excavatum, kyphoscoliosis).
*Retinal detachment.
*Retinal detachment.
*Fibrillin-1 defect.<ref name=pmid20351703>{{Cite journal  | last1 = Cañadas | first1 = V. | last2 = Vilacosta | first2 = I. | last3 = Bruna | first3 = I. | last4 = Fuster | first4 = V. | title = Marfan syndrome. Part 1: pathophysiology and diagnosis. | journal = Nat Rev Cardiol | volume = 7 | issue = 5 | pages = 256-65 | month = May | year = 2010 | doi = 10.1038/nrcardio.2010.30 | PMID = 20351703 }}</ref>
*Fibrillin-1 defect.<ref name=pmid20351703>{{Cite journal  | last1 = Cañadas | first1 = V. | last2 = Vilacosta | first2 = I. | last3 = Bruna | first3 = I. | last4 = Fuster | first4 = V. | title = Marfan syndrome. Part 1: pathophysiology and diagnosis. | journal = Nat Rev Cardiol | volume = 7 | issue = 5 | pages = 256-65 | month = May | year = 2010 | doi = 10.1038/nrcardio.2010.30 | PMID = 20351703 }}</ref>
*Arachnodactyly (long slender fingers & toes).
*Aortic aneurysm.
*Negative nitroprusside test.
*Neurologic - ''dural ectasia''.<ref>URL: [http://emedicine.medscape.com/article/946315-overview http://emedicine.medscape.com/article/946315-overview]. Accessed on: 6 September 2010.</ref>
**Nitroprusside test done to r/o homocystinuria.


==See also==
==See also==
Line 15: Line 14:
==References==
==References==
{{reflist|1}}
{{reflist|1}}
==External links==
*[http://emedicine.medscape.com/article/946315-overview Marfan syndrome (emedicine.medscape.com)].


[[Category:Syndromes]]
[[Category:Syndromes]]

Revision as of 03:16, 7 September 2010

Marfan syndrome is an autosomal dominant disorder and something vascular surgeons see.

Features - memory device MARFAN:

  • Mitral valve prolapse.
  • Arachnodactyly (long slender fingers & toes) and other skeletal abnormalities (e.g. pectus excavatum, kyphoscoliosis).
  • Retinal detachment.
  • Fibrillin-1 defect.[1]
  • Aortic aneurysm.
  • Neurologic - dural ectasia.[2]

See also

References

  1. Cañadas, V.; Vilacosta, I.; Bruna, I.; Fuster, V. (May 2010). "Marfan syndrome. Part 1: pathophysiology and diagnosis.". Nat Rev Cardiol 7 (5): 256-65. doi:10.1038/nrcardio.2010.30. PMID 20351703.
  2. URL: http://emedicine.medscape.com/article/946315-overview. Accessed on: 6 September 2010.

External links