Abstract

MICHEL MARTINEZ, Andree J.; CHAVEZ CAMACHO, Roberto Joaquín  and  LAGUNA CHAVEZ, Roy Arnold. CARDIOVASCULAR COMPROMISE IN MARFAN SYNDROME: CASE REPORT. Rev Cient Cienc Méd [online]. 2020, vol.23, n.2, pp.252-257. ISSN 1817-7433.

Marfan syndrome is a connective tissue disease caused by mutations in the FBN I gene, which encodes fibrillin-1, a fundamental glycoprotein of the microfibril component. Among the clinical manifestations, cardiovascular involvement deserves special consideration, due to its prognosis. We present a 40-year-old man who came to the National Thorax Institute for a clinical picture of 2 years of evolution characterized by symptoms of decompensated heart failure, aortic insufficiency and underlying collagenous criteria, before which, after cabinet studies and the use of the relevant criteria (modified Ghent) leads to the diagnosis of Marfan Syndrome. The survival of these patients depends on early diagnosis, avoiding complications that are mostly fatal, the use of scores is helpful and timely intervention leads to a better prognosis for life and avoids invasive procedures and therefore other complications.

Keywords : Marfan syndrome; fibrillin-1; heart failure.

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