Resumo

ROMERO-ASIN, Alexis; VIDAL-CASAL, Joan Javier  e  ASIN-RODRIGUEZ, Denis. Marfan syndrome, a genetic disease with cardiovascular complications. Rev.Med.Electrón. [online]. 2022, vol.44, n.2, pp.425-433.  Epub 30-Abr-2022. ISSN 1684-1824.

Marfan syndrome is an autosomal dominant inheritance disorder caused by a genetic alteration on chromosome 15; it affects multiple organs and systems of connective tissue, mainly cardiovascular. It is equally likely to appear in both sexes and it can be hereditary or the result of a spontaneous genetic mutation. The most dangerous complications are those that affect the heart and blood vessels. The diagnosis is clinical and depends on the combination of several criteria, which allows to evaluate the progression of cardiovascular lesions, while determining the opportune moment for a surgical option. The syndrome requires multidisciplinary care to achieve a reduction in morbidity and mortality. The clinical case of a male patient who meet the diagnostic criteria for the disease is presented. He had systemic alterations and complications that rapidly evolved unfavorably and, despite medical care, he died.

Palavras-chave : Marfan syndrome; dilatation of the aortic root; genetic diseases.

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