Difference between revisions of "Marfan syndrome"
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Features - memory device ''MARFAN'': | Features - memory device ''MARFAN'': | ||
*Mitral valve prolapse. | *[[Mitral valve prolapse]]. | ||
* | *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> | ||
* | *Aortic aneurysm / [[aortic dissection]].<ref name=pmid22465552>{{Cite journal | last1 = Waterman | first1 = AL. | last2 = Feezor | first2 = RJ. | last3 = Lee | first3 = WA. | last4 = Hess | first4 = PJ. | last5 = Beaver | first5 = TM. | last6 = Martin | first6 = TD. | last7 = Huber | first7 = TS. | last8 = Beck | first8 = AW. | title = Endovascular treatment of acute and chronic aortic pathology in patients with Marfan syndrome. | journal = J Vasc Surg | volume = 55 | issue = 5 | pages = 1234-41 | month = May | year = 2012 | doi = 10.1016/j.jvs.2011.11.089 | PMID = 22465552 }} | ||
* | </ref> | ||
* | *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> | ||
==Microscopic== | |||
*Aortic aneurysm - see: ''[[cystic medial degeneration]]''. | |||
==See also== | ==See also== | ||
*[[Vascular disease]]. | *[[Vascular disease]]. | ||
*[[Multiple endocrine neoplasia 2B]]. | |||
*[[Ehlers-Danlos syndrome]]. | |||
==References== | ==References== | ||
{{reflist| | {{reflist|2}} | ||
==External links== | |||
*[http://emedicine.medscape.com/article/946315-overview Marfan syndrome (emedicine.medscape.com)]. | |||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
Latest revision as of 20:04, 7 May 2012
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 / aortic dissection.[2]
- Neurologic - dural ectasia.[3]
Microscopic
- Aortic aneurysm - see: cystic medial degeneration.
See also
References
- ↑ 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.
- ↑ Waterman, AL.; Feezor, RJ.; Lee, WA.; Hess, PJ.; Beaver, TM.; Martin, TD.; Huber, TS.; Beck, AW. (May 2012). "Endovascular treatment of acute and chronic aortic pathology in patients with Marfan syndrome.". J Vasc Surg 55 (5): 1234-41. doi:10.1016/j.jvs.2011.11.089. PMID 22465552.
- ↑ URL: http://emedicine.medscape.com/article/946315-overview. Accessed on: 6 September 2010.