Emerging role of radiogenomics in genetically triggered thoracic aortic aneurysm and dissection: a narrative review

BACKGROUND AND OBJECTIVE: Thoracic aortic aneurysm and dissection (TAAD) and its complications are life-threatening conditions. Hypertension and atherosclerosis had all along been recognized as the predominant risk factors for the development of TAAD. However, it was increasingly reported that genetic factors, such as single nucleotide polymorphisms (SNPs), are playing an important role in the disease development. The development of next-generation sequencing (NGS) and the rapid growth in radiomics provide a promising new platform to evaluate genetically triggered thoracic aortic aneurysm and dissection (GTAAD) from a new angle. This review is to present an overview of currently available knowledge regarding the use of radiomics and radiogenomics in GTAAD. METHODS: We performed literature searches in PubMed, EMBASE and Cochrane database from 2012 to 2022 regarding the use of radiomics and radiogenomics in GTAAD. KEY CONTENT AND FINDINGS: There were only 13 studies on radiomics and 4 studies on radiogenomics integration retrieved from the search and it signifies there is still a significant knowledge gap in this field of translational medicine. An overview of the current knowledge of GTAAD, the workflow and role of radiomics, the radiogenomics integration for GTAAD including its potential role in the development of polygenic scores, as well as the implications, challenges, and limitations of radiogenomics research were discussed. CONCLUSIONS: In the contemporary era, radiogenomics has been emerging as a state-of-the art approach to establish statistical correlation with radiomics features with genomic information in diagnosis, risk modeling and prediction and treatment decision in TAAD.