Síndrome de Marfan

Miguel Marx, Eudes Alves Simões Neto, Maria Nizete Tavares Alves, José Marcondes Macêdo Landim, Martha Maria Macedo Bezerra

Resumo


O presente estudo consiste numa revisão bibliográfica das bases de dados PubMed e Scielo. Os artigos foram buscados utilizando a expressão Marfan Syndrome. Obteve 239 artigos de livre acesso no PubMed e 06 no Scielo, foram selecionados 37 trabalhos mais relevantes dos últimos cinco anos no tocante aos aspectos genéticos, fisiopatologia, diagnóstico e tratamento, e mais sete de datas anteriores, devido a sua importância histórica. Síndrome de Marfan é uma doença sistêmica, autossômica dominante do tecido conjuntivo causada por mutações nas proteínas da matriz extracelular, especialmente a fibrilina-1. Afeta principalmente os sistemas cardiovascular, esquelético e olhos. As manifestações mais freqüentes são: aneurisma de aorta torácica, luxação do cristalino ocular e crescimento exagerado de ossos longos. Há um novo entendimento sobre o papel da regulação do fator de crescimento tumoral β. Esta revisão destaca fisiopatologia, manifestações clínicas, tratamento padrão, bem como opções terapêuticas inovadoras. Considera importante o acompanhamento multidisciplinar, objetivando o diagnóstico precoce, reduzindo a morbimortalidade dos indivíduos afetados.

 


Palavras-chave


Síndrome de Marfan; FBN1; Diagnóstico; Tratamento; TGF-β

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Referências


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DOI: https://doi.org/10.14295/idonline.v10i33.633

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