Massive aortic regurgitation with giant aorta aneurysm in Marfan syndrome
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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Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2022
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| Acceso en línea: | https://revistas.unc.edu.ar/index.php/med/article/view/30846 |
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I10-R327-article-308462023-03-20T16:24:58Z Massive aortic regurgitation with giant aorta aneurysm in Marfan syndrome Insuficiencia aórtica masiva con aneurisma de aorta gigante en síndrome de Marfan Insuficiência aórtica massiva com aneurisma de aorta gigante na síndrome de Marfan Ricarte-Bratti, Juan Pablo Martínez, Layla Florencia Bono, Julio Oscar Emilio Córdoba, Ignacio Córdoba, Roque Augusto Marfan syndrome aortic aneurysm aortic regurgitation síndrome de Marfan aneurisma de aorta ascendente insuficiencia aórtica Nada que agregar síndrome de Marfan aneurisma da aorta ascendente insuficiência aórtica 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. El síndrome de Marfan es una enfermedad hereditaria autosómica dominante que compromete diversos sistemas que habitualmente requieren un enfoque multidisciplinario. La causa del síndrome de Marfan es desconocida, pero recientes estudios genéticos han relacionado esta enfermedad a un defecto microfibrilar extracelular localizado en el cromosoma 15q15-q21,3. Debido a la severidad de los signos y síntomas el diagnóstico suele ser a edad muy temprana. Reportamos un paciente con síndrome de Marfan extremo con todas las particulares que éste síndrome ofrece. A síndrome de Marfan é uma doença hereditária autossômica dominante que envolve vários sistemas que geralmente requerem uma abordagem multidisciplinar. A causa da síndrome de Marfan é desconhecida, mas estudos genéticos recentes relacionaram esta doença a um defeito microfibrilar extracelular localizado no cromossomo 15q15-q21,3. Devido à gravidade dos sinais e sintomas, o diagnóstico geralmente é feito em uma idade muito jovem. Relatamos um paciente com síndrome de Marfan extrema com todas as características que esta síndrome oferece. Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2022-12-21 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion text/html application/pdf https://revistas.unc.edu.ar/index.php/med/article/view/30846 10.31053/1853.0605.v79.n4.30846 Revista de la Facultad de Ciencias Médicas de Córdoba.; Vol. 79 No. 4 (2022); 387-390 Revista de la Facultad de Ciencias Médicas de Córdoba; Vol. 79 Núm. 4 (2022); 387-390 Revista da Faculdade de Ciências Médicas de Córdoba; v. 79 n. 4 (2022); 387-390 1853-0605 0014-6722 10.31053/1853.0605.v79.n4 spa https://revistas.unc.edu.ar/index.php/med/article/view/30846/38971 https://revistas.unc.edu.ar/index.php/med/article/view/30846/39920 Derechos de autor 2022 Universidad Nacional de Córdoba http://creativecommons.org/licenses/by-nc/4.0 |
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Universidad Nacional de Córdoba |
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I-10 |
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R-327 |
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Revista de la Facultad de Ciencias Médicas de Córdoba |
| language |
Español |
| format |
Artículo revista |
| topic |
Marfan syndrome aortic aneurysm aortic regurgitation síndrome de Marfan aneurisma de aorta ascendente insuficiencia aórtica Nada que agregar síndrome de Marfan aneurisma da aorta ascendente insuficiência aórtica |
| spellingShingle |
Marfan syndrome aortic aneurysm aortic regurgitation síndrome de Marfan aneurisma de aorta ascendente insuficiencia aórtica Nada que agregar síndrome de Marfan aneurisma da aorta ascendente insuficiência aórtica Ricarte-Bratti, Juan Pablo Martínez, Layla Florencia Bono, Julio Oscar Emilio Córdoba, Ignacio Córdoba, Roque Augusto Massive aortic regurgitation with giant aorta aneurysm in Marfan syndrome |
| topic_facet |
Marfan syndrome aortic aneurysm aortic regurgitation síndrome de Marfan aneurisma de aorta ascendente insuficiencia aórtica Nada que agregar síndrome de Marfan aneurisma da aorta ascendente insuficiência aórtica |
| author |
Ricarte-Bratti, Juan Pablo Martínez, Layla Florencia Bono, Julio Oscar Emilio Córdoba, Ignacio Córdoba, Roque Augusto |
| author_facet |
Ricarte-Bratti, Juan Pablo Martínez, Layla Florencia Bono, Julio Oscar Emilio Córdoba, Ignacio Córdoba, Roque Augusto |
| author_sort |
Ricarte-Bratti, Juan Pablo |
| title |
Massive aortic regurgitation with giant aorta aneurysm in Marfan syndrome |
| title_short |
Massive aortic regurgitation with giant aorta aneurysm in Marfan syndrome |
| title_full |
Massive aortic regurgitation with giant aorta aneurysm in Marfan syndrome |
| title_fullStr |
Massive aortic regurgitation with giant aorta aneurysm in Marfan syndrome |
| title_full_unstemmed |
Massive aortic regurgitation with giant aorta aneurysm in Marfan syndrome |
| title_sort |
massive aortic regurgitation with giant aorta aneurysm in marfan syndrome |
| description |
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. |
| publisher |
Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología |
| publishDate |
2022 |
| url |
https://revistas.unc.edu.ar/index.php/med/article/view/30846 |
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2024-09-03T21:02:10Z |
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