Heritable FLNA Gene Mutation in a Patient With Thoracic Aortic Aneurysm

A 47-year-old woman with systemic lupus erythematosus and previously repaired ascending aortic aneurysm presented with a new ascending aortic aneurysm. Genetic testing revealed a FLNA gene mutation. Her mother subsequently tested positive and was found to have an aneurysm on screening, illustrating...

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Detalles Bibliográficos
Autores principales: Siddiqui, Safanah T., Fisher, Stacy D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8784708/
https://www.ncbi.nlm.nih.gov/pubmed/35106490
http://dx.doi.org/10.1016/j.jaccas.2021.11.019
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author Siddiqui, Safanah T.
Fisher, Stacy D.
author_facet Siddiqui, Safanah T.
Fisher, Stacy D.
author_sort Siddiqui, Safanah T.
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description A 47-year-old woman with systemic lupus erythematosus and previously repaired ascending aortic aneurysm presented with a new ascending aortic aneurysm. Genetic testing revealed a FLNA gene mutation. Her mother subsequently tested positive and was found to have an aneurysm on screening, illustrating the utility of genetic screening for aortopathies. (Level of Difficulty: Intermediate.)
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spelling pubmed-87847082022-01-31 Heritable FLNA Gene Mutation in a Patient With Thoracic Aortic Aneurysm Siddiqui, Safanah T. Fisher, Stacy D. JACC Case Rep Case Report A 47-year-old woman with systemic lupus erythematosus and previously repaired ascending aortic aneurysm presented with a new ascending aortic aneurysm. Genetic testing revealed a FLNA gene mutation. Her mother subsequently tested positive and was found to have an aneurysm on screening, illustrating the utility of genetic screening for aortopathies. (Level of Difficulty: Intermediate.) Elsevier 2022-01-19 /pmc/articles/PMC8784708/ /pubmed/35106490 http://dx.doi.org/10.1016/j.jaccas.2021.11.019 Text en © 2022 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Siddiqui, Safanah T.
Fisher, Stacy D.
Heritable FLNA Gene Mutation in a Patient With Thoracic Aortic Aneurysm
title Heritable FLNA Gene Mutation in a Patient With Thoracic Aortic Aneurysm
title_full Heritable FLNA Gene Mutation in a Patient With Thoracic Aortic Aneurysm
title_fullStr Heritable FLNA Gene Mutation in a Patient With Thoracic Aortic Aneurysm
title_full_unstemmed Heritable FLNA Gene Mutation in a Patient With Thoracic Aortic Aneurysm
title_short Heritable FLNA Gene Mutation in a Patient With Thoracic Aortic Aneurysm
title_sort heritable flna gene mutation in a patient with thoracic aortic aneurysm
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8784708/
https://www.ncbi.nlm.nih.gov/pubmed/35106490
http://dx.doi.org/10.1016/j.jaccas.2021.11.019
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