Prevalence and Influence of Genetic Variants on Follow-Up Results in Patients Surviving Thoracic Aortic Therapy

<b>Background/Objective:</b> To investigate the prevalence and effects of genetic variants (GVs) in survivors of thoracic aortic dissection/aneurysm repair. <b>Methods:</b> Patients aged 18-80 years who survived follow-up after cardiosurgical or endovascular repair of thoracic aortic aneurysm or dissection at a single tertiary center between 2008 and 2019 and underwent genetic testing were enrolled. The exclusion criteria were age >60 years, no offspring, and inflammatory- or trauma-related pathogenesis. Follow-up entailed computed tomography-angiography at 3 and 9 months and annually thereafter. All patients underwent genetic analyses of nine genes using next-generation sequencing. In cases of specific suspicion, the analysis was expanded to include 32 genes. <b>Results:</b> The study included 95 patients. The follow-up period was 3 ± 2.5 years. GVs were detected in 40% of patients. Correlation analysis according to primary diagnosis showed no significant correlation in disease persistence, progression, or in reintervention rates in aneurysm patients and a correlation of disease persistence with genetic variants according to variant class in dissection patients (<i>p</i> = 0.037). Correlation analysis according to follow-up CD finding revealed that patients with detected dissection, irrespective of original pathology, showed a strong correlation with genetic variants regarding disease progression and reintervention rates (<i>p</i> = 0.012 and <i>p</i> = 0.047, respectively). <b>Conclusions:</b> The prevalence of VUS is high in patients with aortic pathology. In patients with dissected aorta in the follow-up, irrespective of original pathology, genetic variants correlate with higher reintervention rates, warranting extended-spectrum genetic testing. The role of VUS may be greater than is currently known.