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As people with Marfan syndrome live longer, other vascular repairs are becoming more common, e.g., repairs of descending thoracic aortic aneurysms and aneurysms of vessels other than the aorta. [citation needed] The skeletal and ocular manifestations of Marfan syndrome can also be serious, although not life-threatening.
Heritable connective tissue diseases are rare, each disorder estimated at one to ten per 100,000, of which Marfan syndrome is the most common. It is carried by the FBN1 gene on chromosome 15, which encodes the connective protein fibrillin-1, [ 12 ] [ 13 ] inherited as a dominant trait.
Marfan syndrome - inherited as an autosomal dominant characteristic, due to mutations in the FBN1 gene that encodes fibrillin 1. [3] Homocystinuria - condition of methionine metabolism brought on by a cystathionine β-synthase deficit that causes a build-up of homocysteine and its metabolites in the urine and blood. [4]
Antoine Bernard-Jean Marfan (French pronunciation: [ɑ̃twan bɛʁnaʁ ʒɑ̃ maʁfɑ̃]; June 23, 1858 – February 11, 1942) was a French paediatrician. He was born in Castelnaudary (département Aude , Languedoc-Roussillon ) to Antoine Prosper Marfan and Adélaïde Thuries. [ 1 ]
Schiavelli was honorary co-chair of the National Marfan Foundation, an organization that serves those affected by Marfan syndrome, a condition that Schiavelli had. [4] Schiavelli also performed in a few video games, including Emperor: Battle for Dune (as Harkonnen Mentat Yanich Kobal) and as Dr. Hellman in the video game Corpse Killer.
Marfanoid (or Marfanoid habitus) is a constellation of signs resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 of the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity.
Their durability is long life, while tissue valves can last for up to 15–20 years. [ 26 ] [ 27 ] [ 13 ] Since the risk of blood clots forming is higher with mechanical valves than with tissue valves, patients with mechanical heart valves are required to take anticoagulant (blood-thinning) drugs, such as warfarin , long-life, making them more ...
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]