Heritable FLNA Gene Mutation in a Patient With Thoracic Aortic Aneurysm

胸主动脉瘤患者的遗传性FLNA基因突变

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Abstract

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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