Ghazy Tamer, Elzanaty Nesma, Lackner Helmut Karl, Irqsusi Marc, Rastan Ardawan J, Behrendt Christian-Alexander, Mahlmann Adrian
Department of Cardiac and Thoracic-Vascular Surgery, University Hospital Giessen and Marburg, Philipps University of Marburg, 35043 Marburg, Germany.
Department of Medical Physiology, Tanta Faculty of Medicine, Tanta University, Tanta 31527, Egypt.
J Clin Med. 2024 Sep 5;13(17):5254. doi: 10.3390/jcm13175254.
To investigate the prevalence and effects of genetic variants (GVs) in survivors of thoracic aortic dissection/aneurysm repair. 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. 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 ( = 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 ( = 0.012 and = 0.047, respectively). 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.
研究胸主动脉夹层/动脉瘤修复术后幸存者中基因变异（GVs）的患病率及影响。纳入2008年至2019年期间在单一三级中心接受胸主动脉瘤或夹层的心脏外科或血管内修复术后存活并接受基因检测的18至80岁患者。排除标准为年龄>60岁、无后代以及炎症或创伤相关的发病机制。随访包括在3个月和9个月时进行计算机断层扫描血管造影，此后每年进行一次。所有患者使用下一代测序对9个基因进行基因分析。在特定怀疑的情况下，分析扩展至包括32个基因。该研究纳入了95例患者。随访期为3±2.5年。40%的患者检测到GVs。根据初步诊断进行的相关性分析显示，动脉瘤患者的疾病持续、进展或再次干预率无显著相关性，而夹层患者中根据变异类别，疾病持续与基因变异存在相关性（P = 0.037）。根据随访时的计算机断层扫描结果进行的相关性分析显示，无论原始病理如何，检测到夹层的患者在疾病进展和再次干预率方面与基因变异均有很强的相关性（分别为P = 0.012和P = 0.047）。主动脉病变患者中意义未明的变异（VUS）患病率很高。在随访中有主动脉夹层的患者中，无论原始病理如何，基因变异与较高的再次干预率相关，因此有必要进行更广泛的基因检测。VUS的作用可能比目前所知的更大。
