Resumo

RODRIGUEZ AMADOR, Laydamí et al. Marfan syndrome. A case report. Medisur [online]. 2022, vol.20, n.4, pp. 767-775.  Epub 30-Ago-2022. ISSN 1727-897X.

Marfan syndrome is an autosomal dominant genetic disease of connective tissue, characterized by a variable combination of cardiovascular, musculoskeletal, and ophthalmologic manifestations. Despite the discovery of the causal mutations, its diagnosis is complex, as it exhibits great diversity in its clinical presentation and lacks pathognomonic characteristics. The current diagnosis of Marfan syndrome is based on a series of clinical and genetic criteria called the revised Ghent Criteria. The case of a 44-years-old female patient with a history of lens dislocation, myopia and scoliosis, with no family pathological history and who met current diagnostic criteria is described. The etiological investigation of conditions such as lens dislocation and scoliosis is suggested, by the corresponding specialties, as an organic translation of a systemic disease such as Marfan syndrome.

Palavras-chave : Marfan syndrome; genetic diseases, inborn; aneurysm, dissecting.

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