Resumo

PENAFIEL-CRIOLLO, Evelyn Johana; ALMACHE-TERCERO, Rosa Lisbeth  e  COBO-ALVAREZ, Daniela Abigail. Marfan Syndrome. Presentation of a case. Rev. inf. cient. [online]. 2022, vol.101, n.5  Epub 20-Out-2022. ISSN 1028-9933.

An eight years-old male patient was presented, with a personal history of dyspnea, and who in the physical examination was found, in the Erb´s point, to have a small heart murmur. A transthoracic echocardiogram was performed. Marfan Syndrome is a rare pathology caused by a genetic mutation in fibrillin 1, essential for the synthesis of elastic connective tissue. It is associated with a high penetrance and marked phenotypic heterogeneity. Among the different clinical manifestations, cardiovascular involvement deserves special attention. Diagnosis requires a complete clinical evaluation of multiple organs and systems. Because of its extensive symptomatology, decision making is complex, therefore, when Marfan Syndrome is suspected, the revised Ghent criteria should be applied. Given the impact of prognosis and management, early medical therapy and timely surgical intervention, the patient's quality of life improved substantially.

Palavras-chave : Marfan Syndrome; genetics; mutation; fibrillin.

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