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
Descripción
Sumario: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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