Keywords
Connective tissue diseases
Fibrillin-1
Aortic aneurysm
How to Cite
Abstract
This article aimed to identify characteristics of the pathophysiology, clinical presentation, and therapeutic interventions of Marfan Syndrome (MS), based on recent scientific literature. Articles published between 2019 and 2024, in English and Portuguese, were selected through the PubMed database, using terms related to Marfan Syndrome. MS is a genetic condition caused by mutations in genes that encode components of the extracellular matrix and connective tissue, mainly fibrillin 1, responsible for tissue resistance and elasticity. Because it involves connective tissues present in several organs, MS presents manifestations in multiple systems, with emphasis on the cardiovascular, ophthalmological, and musculoskeletal systems. The most serious complications are related to the aorta, including dissection, aneurysm, and dilation. Diagnosis is based on the Ghent II criteria, which consider personal and family medical history, in addition to genetic analyses. There is no cure for the syndrome, but specific interventions, such as the use of beta-blockers, contribute to reducing mortality from vascular causes. A proper understanding of MS is essential due to its potential for fatal complications. The prognosis of patients depends on early diagnosis and continuous multidisciplinary follow-up.
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Copyright (c) 2025 Thiago José Islanderson dos Santos Castro, Felipe Viana Ferreira Gomes, Luiza Magalhães Emerenciano, Carolina Magalhães Emerenciano, Ana Paula Angeline Uzêda Lodi, Amanda Vanessa de Melo Sampaio, Rômulo José Falcão Farias, Felipe De Novaes Alves, Jéssica Raianne Silva Cruz, Palloma Oliveira de França, Palloma Oliveira de França, Claudianne Borges da Silva Bispo, Helena Eduarda Terres Hennrichs, Thiago Melo do Espírito Santo