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

TL;DR

This study examines how genetic variants affect outcomes in patients who survived thoracic aortic surgery, finding that these variants correlate with higher reintervention rates in some cases.

Contribution

The study identifies a correlation between genetic variants and higher reintervention rates in thoracic aortic dissection patients during follow-up.

Findings

Genetic variants were detected in 40% of the 95 patients studied.

In dissection patients, genetic variants correlated with disease persistence (p = 0.037).

Dissection patients with genetic variants had higher reintervention rates (p = 0.012 and p = 0.047).

Abstract

Background/Objective: To investigate the prevalence and effects of genetic variants (GVs) in survivors of thoracic aortic dissection/aneurysm repair. Methods: 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. Results: 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 (p = 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 (p = 0.012 and p = 0.047, respectively). Conclusions: 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.

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