Cadenet Margaux, Hanna Nadine, Arnaud Pauline
Département de génétique, APHP, Hôpital Bichat, Paris
Université Paris Cité, Inserm U1148 Laboratory for Translational Vascular Research, Paris
Ann Biol Clin (Paris). 2022 Jul 1;80(4):344-354. doi: 10.1684/abc.2022.1742.
The thoracic aortic aneurysm corresponds to the dilation of the ascending part of the aorta, which can lead to a dissection (TAAD for Thoracic Aortic Aneurysm and Dissection) or aortic rupture. The etiologies are diverse, but in approximately 20% of cases a genetic origin is found. About thirty genes are reported to be responsible for the development of TAAD. The majority of these genes encode for proteins involved in the extracellular matrix, the contraction of smooth muscle cells or the growth factor TGF-β signaling pathway. Identifying the pathogenic variant responsible for the aortic disease becomes essential to make a definitive diagnosis, to guide and to personalize the treatment of the patients but also to screen relatives at risk. The availability and access to genetic testing have improved considerably with the development of new sequencing techniques (NGS for Next Generation Sequencing) and the use of gene panels. This review summarizes the main genes associated with TAAD as well as the current diagnostic strategy.
胸主动脉瘤是指升主动脉扩张，可导致夹层形成（胸主动脉瘤和夹层，英文缩写为TAAD）或主动脉破裂。病因多种多样，但约20%的病例有遗传因素。据报道，约有30个基因与TAAD的发生有关。这些基因中的大多数编码参与细胞外基质、平滑肌细胞收缩或生长因子TGF-β信号通路的蛋白质。确定导致主动脉疾病的致病变异对于做出明确诊断、指导和个性化患者治疗以及筛查有风险的亲属至关重要。随着新一代测序技术（NGS）的发展和基因检测板的使用，基因检测的可用性和可及性有了显著提高。本综述总结了与TAAD相关的主要基因以及当前的诊断策略。
