Genetic Testing Following Type A Thoracic Aortic Dissection - The Good, the Bad and the Ugly. [Review]

Walker, MJ.; Simela, C.; Psefteli, PM.; Straw, S.; Griffin, K.; Baig, W.

Genetic Testing Following Type A Thoracic Aortic Dissection - The Good, the Bad and the Ugly. [Review]

All Authors

Walker, MJ.

Simela, C.

Psefteli, PM.

Straw, S.

Griffin, K.

Baig, W.

LTHT Author

Walker, Miriam Jassam
Simela, Carl
Straw, Sam
Griffin, Kathryn
Baig, Wazir

LTHT Department

Cardio-Respiratory
Cardiology
Pathology
Histopathology

Publication Date

2025

Item Type

Journal Article
Review
Case Reports

Abstract

Genetic testing is indicated for suspected familial thoracic aortic aneurysm or following dissection to complement targeted screening of first-degree relatives. Our data suggest that tissue storage and genetic testing in the setting of suspected heritable thoracic aortic aneurysm and dissection (HTAAD) are underutilized. In this focussed review, we outline the genetic basis of HTAAD and the current guidelines regarding genetic testing. We present a case series demonstrating both favourable and unfavourable genetic testing practices. We suggest potential improvements to current genetic testing algorithms, such as increased involvement of medical examiners and emergency department clinicians, to help identify patients and families suitable for genetic testing. Additionally, we provide a description of the pathophysiology underlying inheritable aortopathies.