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• W1993944307 abstract "Marfan syndrome is an autosomal dominant connective tissue disease with an estimated incidence of 1 in 5000 individuals. In 90% of cases it is caused by mutations in the gene for fibrillin-1, the main constituent of extracellular microfibrils. Studies on animal models of Marfan syndrome have revealed that fibrillin-1 mutations interfere with local TGF-β signaling, in addition to impairing tissue integrity. The cardinal features involve the cardiovascular, ocular and skeletal systems. The diagnosis of Marfan syndrome is made according to the revised Ghent nosology. Early identification and appropriate management are critical for patients with Marfan syndrome, who are prone to the life-threatening cardiovascular complications of aortic aneurysms and aortic dissection. The standard treatment includes prophylactic beta-blockers in order to slow down dilation of the ascending aorta, and prophylactic aortic surgery. The success of current medical and surgical treatment of aortic disease in Marfan syndrome has substantially improved mean life expectancy, extending it above 72 years. This review aims to provide an overview of this hereditary disorder.A síndrome de Marfan é uma doença autossómica dominante do tecido conjuntivo, com uma incidência estimada de um em 5000 indivíduos. Em 90% dos casos resulta de mutações do gene da fibrilina-1, principal componente das microfibrilas da matriz extracelular. Estudos em modelos animais da síndrome de Marfan demonstraram que as mutações da fibrilina-1 interferem com a via de sinalização do TGF-β, além de comprometer a integridade do tecido conjuntivo. As principais manifestações envolvem os sistemas cardiovascular, ocular e esquelético. O diagnóstico da síndrome de Marfan é feito de acordo com a nova revisão da nosologia de Ghent. Um diagnóstico precoce e tratamento adequado são fundamentais para os doentes com síndrome de Marfan que estão sujeitos às complicações cardiovasculares potencialmente fatais dos aneurismas da aorta e da disseção aórtica. O tratamento padrão inclui β-bloqueantes profiláticos para diminuir a taxa de dilatação da aorta ascendente e cirurgia profilática da aorta. O sucesso do tratamento médico e cirúrgico atual da patologia aórtica da síndrome de Marfan melhorou substancialmente a esperança média de vida, estendendo-a acima dos 72 anos. Esta revisão visa proporcionar uma visão global desta doença hereditária." @default.
• W1993944307 created "2016-06-24" @default.
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• W1993944307 date "2002-10-01" @default.
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• W1993944307 title "Van Wyk and Grumbach Syndrome (A Syndrome of Incomplete Isosexual Precocity and Juvenile Hypothyroidism)" @default.
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• W1993944307 doi "https://doi.org/10.1016/s0377-1237(02)80095-8" @default.
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