Insuficiencia aórtica masiva con aneurisma de aorta gigante en síndrome de Marfan

Marfan syndrome is an autosomal dominant hereditary disease that compromises various systems that usually require a multidisciplinary approach. The cause of Marfan syndrome is unknown, but recent genetic studies have related this disease to an extracellular microfibrillar defect located on chromosom...

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Detalles Bibliográficos
Autores principales: Ricarte-Bratti, Juan Pablo, Martínez, Layla Florencia, Emilio Bono, Julio Oscar, Córdoba, Ignacio, Córdoba, Roque Augusto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Universidad Nacional de Córdoba 2022
Materias:
Casos Clínicos
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9987305/
https://www.ncbi.nlm.nih.gov/pubmed/36542593
http://dx.doi.org/10.31053/1853.0605.v79.n4.30846
Descripción
Sumario:Marfan syndrome is an autosomal dominant hereditary disease that compromises various systems that usually require a multidisciplinary approach. The cause of Marfan syndrome is unknown, but recent genetic studies have related this disease to an extracellular microfibrillar defect located on chromosome 15q15-q21.3. Due to the severity of the signs and symptoms the diagnosis is usually at a very young age. We report a patient with extreme Marfan syndrome with all the particulars that this syndrome offers.

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