Date of Award

January 2024

Document Type

Open Access Thesis

Degree Name

Medical Doctor (MD)



First Advisor

John A. Elefteriades


AimsThoracic aortic aneurysms and dissections are significant yet under-recognized threats in cardiovascular health, often remaining undetected until catastrophic events occur. This study aims to explore the genetic landscape of thoracic aortic diseases, focusing on genetic mutations contributing to thoracic aortic aneurysm (TAA) and dissection. It also seeks to refine the size criteria for surgical intervention in TAA, aiding clinicians in decision-making and improving patient outcomes.

MethodsThe study employed a comprehensive literature review, focusing on the genetic aspects of thoracic aortic diseases. In addition to a systematic MEDLINE search, the investigation used the Genomics England PanelApp to identify genes associated with TAA and dissection. This research builds on the work of Dr. John Elefteriades and the Yale Aortic Institute published in 2019 which incorporated updated size criteria for surgical interventions based on type of genetic mutation.

ResultsThe investigation expands the genetic landscape understanding of TAA, identifying 68 genes with different levels of association through the Genomics England PanelApp. Among these, thirty-three genes have a strong association ("green" designation), five are of moderate concern ("amber"), and thirty have a lesser-known impact ("red"). Additionally, the research proposes a shift in size criteria for surgical interventions, specifically a “left shift” in thresholds, particularly for genes related to Loeys-Dietz syndrome and others.

ConclusionsThis study highlights the evolving genetic complexity in thoracic aortic diseases. Several new genetic variants with strong associations to TAA have been identified, necessitating updates in genetic screening panels. The research also emphasizes the change in size criteria for surgical intervention, advocating for a more proactive approach in managing TAAs. Future research should continue exploring genetic contributors, reevaluating genes with medium or weak associations, and refining intervention criteria based on non-size factors. This advanced genetic understanding of TAA and dissection offers a nuanced perspective, paving the way for improved patient management and outcomes in thoracic aortic diseases.


This is an Open Access Thesis.

Open Access

This Article is Open Access