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Genetic Testing in Thoracic Aortic Disease--When, Why, and How?
Sarah C Bowdin1, Anne-Marie Laberge2, Aline Verstraeten3
1Division of Clinical and Metabolic Genetics, Department of Paediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.
The Canadian Journal of Cardiology
|November 26, 2015
Summary
Genetic testing for thoracic aortic aneurysm and dissection (TAAD) aids risk stratification and personalized treatment. Identifying genetic causes enables better patient management and family screening for this serious cardiovascular condition.
Area of Science:
- Cardiovascular Genetics
- Thoracic Aortic Disease
Background:
- Thoracic aortic aneurysm and acute dissection (TAAD) have a polygenic basis in some patients.
- Genotype-based risk stratification is emerging for aneurysmal dilatation and acute dissection.
- Clinical guidelines now recommend genetic mutation analysis to guide aortic repair timing.
Purpose of the Study:
- To provide an approach for cardiologists and vascular surgeons to identify patients benefiting from genetic testing for TAAD.
- To justify the use of genetic testing in the clinical management of TAAD.
- To outline a practical method for ordering genetic tests for TAAD.
Main Methods:
- Review of current evidence on genetic technology and TAAD.
- Analysis of clinical risk stratification based on genotype.
- Development of a practical approach for genetic test ordering.
Main Results:
- Genetic testing can inform individualized medical and surgical management for TAAD.
- Identifying specific genetic causes aids in predicting multisystem involvement.
- Genetic analysis facilitates cascade screening for at-risk family members.
Conclusions:
- Genetic testing is crucial for personalized risk stratification and management of TAAD.
- Identifying genetic mutations guides the timing of aortic repair and predicts associated conditions.
- A systematic approach is needed to assist clinicians in ordering genetic tests for TAAD.
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