Heritable FLNA Gene Mutation in a Patient With Thoracic Aortic Aneurysm

Safanah T. Siddiqui; Stacy D. Fisher

doi:10.1016/j.jaccas.2021.11.019

Heritable FLNA Gene Mutation in a Patient With Thoracic Aortic Aneurysm

Research output: Contribution to journal › Article › peer-review

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.)

Original language	English (US)
Pages (from-to)	87-90
Number of pages	4
Journal	JACC: Case Reports
Volume	4
Issue number	2
DOIs	https://doi.org/10.1016/j.jaccas.2021.11.019
State	Published - Jan 19 2022
Externally published	Yes

Keywords

aorta
cardiovascular disease
genetic disorders
genetics
valve replacement
vascular disease

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

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10.1016/j.jaccas.2021.11.019

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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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AB - 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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KW - genetic disorders

KW - genetics

KW - valve replacement

KW - vascular disease

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Heritable FLNA Gene Mutation in a Patient With Thoracic Aortic Aneurysm

Abstract

Keywords

ASJC Scopus subject areas

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