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Marfan syndrome is named after Antoine Marfan, [11] the French pediatrician who first described the condition in 1896 after noticing striking features in a five-year-old girl. [ 12 ] [ 77 ] The gene linked to the disease was first identified by Francesco Ramirez at the Mount Sinai Medical Center in New York City in 1991.
The principal causes of death due to thoracic aneurysmal disease are dissection and rupture. Once rupture occurs, the mortality rate is 50–80%. Once rupture occurs, the mortality rate is 50–80%. Most deaths in patients with Marfan syndrome are the result of aortic disease.
Marfan syndrome This page was last edited on 7 December 2024, at 09:29 (UTC). Text is available under the Creative Commons Attribution-ShareAlike 4.0 License ...
The Foundation provides information about Marfan syndrome and funds research for the purposes of saving lives and improving the quality of life for people affected by the condition which is a genetic connective tissue disorder. The Foundation also lobbies Congress to fund Marfan syndrome research and engages in its own fundraising activities. [1]
Rheumatic fever (RF), Marfan's syndrome and the Ehlers–Danlos syndromes are other typical causes. [6] Mitral valve stenosis (MVS) can sometimes be a cause of mitral regurgitation (MR) in the sense that a stenotic valve (calcified and with restricted range of movement) allows backflow (regurgitation) if it is too stiff and misshapen to close ...
To date, 3 forms of fibrillin have been described. The fibrillin-1 protein was isolated by Engvall in 1986, [5] and mutations in the FBN1 gene cause Marfan syndrome. [6] [7] This protein is found in humans, and its gene is found on chromosome 15. At present more than 1500 different mutations have been described. [1] [7]
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome ...
This page was last edited on 7 December 2024, at 09:29 (UTC).; Text is available under the Creative Commons Attribution-ShareAlike 4.0 License; additional terms may apply.