Marfan syndrome
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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.