Manejo de síndrome de Marfan

	Circulation. 2008 May 27;117(21):2802-13. Medical management of Marfan syndrome. Keane MG, Pyeritz RE. Departments of Medicine, University of Pennsylvania, Philadelphia, PA 19104-4283, USA. Marfan syndrome is an autosomal dominant, multisystem disease characterized by long bone overgrowth and other skeletal abnormalities, dislocation of the ocular lens, pneumothorax, decreased skeletal muscle mass, mitral valve prolapse, and dilatation of the aortic root. Antoine Bernard-Jean Marfan first described the syndrome in 1896 in a young patient with peculiarly long and thin digits(subsequently termed arachnodactyly), elongated limbs (which he termed dolichostenomelia), and congenital contractures of multiple joints. Because of the latter feature, this patient may really have had congenital contractural arachnodactyly, a connective tissue disorder not described until 1968. For the half century subsequent to Marfan’s report, features in other systems were described in patients with thin, elongated limbs: mitral valve disease in 1912; dislocation of the ocular lens in 1914; ruptured aortic aneurysm in 1918; aortic rootdilatation and dissection in 1943; and autosomal dominant inheritance in 1949. Manifestations occur in many other tissues and organsand are increasingly being recognized as patients survive to older ages.
	PMID: 18506019 [PubMed - indexed for MEDLINE]
	MeSH Terms: Aortic Diseases/epidemiology, Aortic Diseases/genetics, Marfan Syndrome/epidemiology, Marfan Syndrome/therapy*, Mitral Valve Insufficiency/epidemiology, Mitral Valve Insufficiency/therapy*