Abstract

BARBIERI, Federico  and  FRIPP, Gabriel. Aortic root aneurysm in a young patient with Marfan síndrome. Rev.Urug.Cardiol. [online]. 2025, vol.40, n.1, e703.  Epub Dec 01, 2025. ISSN 0797-0048.  https://doi.org/10.29277/cardio.40.1.10.

Marfan syndrome is an autosomal dominant connective tissue disorder with a broad clinical spectrum of manifestations, predominantly involving multiple systems at the ophthalmological, cardiac, and osteoarticular levels. First described in 1886 by the French physician Antoine Marfan in a 5-year-old girl with osteoarticular abnormalities and long, thin limbs, it was later classified as a multisystem disorder by Dr. Victor McKusick after discovering a link between the presence of deformities and aortic aneurysm. Although several complications have been described, cardiovascular complications, primarily aortic dissection, are the main cause of morbidity and mortality. We present a patient with a confirmed diagnosis of Marfan syndrome, with his respective multisystem clinical manifestations, including cardiovascular involvement in the form of an aortic root aneurysm.

Keywords : AORTIC ROOT ANEURYSM; BENTALL-DE BONO; CARDIOVASCULAR INVOLVEMENT; MARFAN SYNDROME; MULTISYSTEM.

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