Genetic Testing Following Type A Thoracic Aortic Dissection — The Good, the Bad and the Ugly
Year: 2025
Type: article
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.
Authors: Miriam Jassam Walker, Carl Simela, Paraskevi-Maria Psefteli, Sam Straw, Kathryn Griffin, Wazir Baig
Institutions: Leeds Teaching Hospitals NHS Trust, University of Leeds
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4416994660