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Indian Journal of Thoracic and Cardiovascular Surgery
Published in: Indian Journal of Thoracic and Cardiovascular Surgery 1/2022

01-04-2022 | Aortic Aneurysm | Review Article

Genetic screening in heritable thoracic aortic disease—rationale, potentials and pitfalls

Authors: Metesh Acharya, Daniele Maselli, Giovanni Mariscalco

Published in: Indian Journal of Thoracic and Cardiovascular Surgery | Special Issue 1/2022

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Abstract

Thoracic aortic aneurysms are silent yet deadly clinical entities which may elude detection until an acutely life-threatening aortic dissection or rupture occurs. Approximately 20% of patients with thoracic aortic aneurysms or dissection have a positive family history, indicating a strong genetic component to the aetiology. Genetic screening in such hereditary thoracic aortic disease (HTAD) may thus be beneficial in detecting causative genetic mutations in affected patients, identifying asymptomatic family members who may be at risk, and in guiding the optimal timing of preventative surgery in those with confirmed genetic aortopathy. Genetic screening can facilitate personalised aortic care tailored to an individual’s specific genetic abnormality, with the aim of mitigating the significant morbidity burden and premature mortality associated with HTAD. This review examines the rationale for genetic screening in HTAD, its potential applications, current limitations and potential future directions.
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Metadata
Title
Genetic screening in heritable thoracic aortic disease—rationale, potentials and pitfalls
Authors
Metesh Acharya
Daniele Maselli
Giovanni Mariscalco
Publication date
01-04-2022
Publisher
Springer Singapore
Published in
Indian Journal of Thoracic and Cardiovascular Surgery / Issue Special Issue 1/2022
Print ISSN: 0970-9134
Electronic ISSN: 0973-7723
DOI
https://doi.org/10.1007/s12055-020-01124-7

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