Resumo

MONTOYA JARAMILLO, Mario; CORTINA, Alonso; PORTO CORBACHO, Daniel  e  LEAL MARTINEZ, Victor. Marfan’s Syndrome. Rev Cuba Reumatol [online]. 2020, vol.22, n.3  Epub 01-Dez-2020. ISSN 1817-5996.

Marfan’s syndrome is a disease that is included in the group of the no autoimmune collagen diseases, the ca use of this syndrome is a mutation in the gen FBN1 that translate the protein fibrillin 1, that is fundamental besides other proteins like elastin to form a part of the extracellular matrix. This defect generates multiple clinical manifestations due to defects in different systems (skeletal, cardiac, big vessels, gastrointestinal, ocular). The reported case is of a patient who reached adulthood without a diagnosis of the diseases, which we incidentally suspect in the context of community acquired pneumonia.

Palavras-chave : Marfan’s Syndrome; hereditary diseases; chromosomic alterations; fibrillin 1.

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