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ISSN 1817-5996 (Electronic)

2020, Number 3

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Rev Cub de Reu 2020; 22 (3)

Marfan’s Syndrome

Montoya JM, Cortina A, Porto CD, Leal MV

Language: Spanish
References: 12
Page:
PDF size: 437.07 Kb.


ABSTRACT

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.


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