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Genetic Testing Following Type A Thoracic Aortic Dissection - The Good, the Bad and the Ugly
Miriam Jassam Walker1, Carl Simela1,2, Paraskevi-Maria Psefteli2
1Department of Cardiology, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
British Journal of Hospital Medicine (London, England : 2005)
|December 24, 2025
Summary
Genetic testing for heritable thoracic aortic aneurysm and dissection (HTAAD) is underutilized. Improving identification through broader clinical involvement can enhance patient and family screening for these aortic diseases.
Area of Science:
- Cardiovascular Genetics
- Medical Diagnostics
Background:
- Familial thoracic aortic aneurysm and dissection (HTAAD) requires genetic testing for diagnosis and family screening.
- Current practices for genetic testing and tissue storage in suspected HTAAD cases appear to be underutilized.
Purpose of the Study:
- To review the genetic basis and current guidelines for HTAAD genetic testing.
- To highlight opportunities for improving the utilization of genetic testing in HTAAD.
- To describe the pathophysiology of inheritable aortopathies.
Main Methods:
- Focused review of genetic basis and guidelines for HTAAD.
- Presentation of a case series illustrating genetic testing practices.
- Discussion of potential improvements to genetic testing algorithms.
Main Results:
- Genetic testing and tissue storage for HTAAD are underutilized.
- Case series demonstrated varied genetic testing practices.
- Opportunities exist to improve identification of suitable candidates for genetic testing.
Conclusions:
- Increased involvement of medical examiners and emergency department clinicians may improve HTAAD identification.
- Optimizing genetic testing algorithms is crucial for managing inheritable aortopathies.
- Enhanced screening strategies can benefit at-risk families.
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