Aortopathies encompass a variety of inherited and acquired pathologies that increase risk of life-threatening dissection or rupture. Identifying individuals with hereditary thoracic aortic aneurysm and dissection (HTAAD) for longitudinal monitoring, medical therapy, or elective and preventative repair is paramount to reduce risk of cardiovascular-related mortality and complications from dissection and rupture. Over the past couple of decades, pathogenic variants in numerous genes have been identified in relation to HTAAD. The genetic diagnosis can help stratify patient risk and provide guidance on medical treatment, timing of prophylactic surgical repair, as well as longitudinal surveillance and imaging. Implicated genes and their associated proteins have been found to act on a diverse variety of pathways, cells and structural components linked to transforming growth factor beta (TGF-β) signaling pathways, disruption of the vascular smooth muscle cell contractile apparatus, and primary disruption of extracellular matrix homeostasis. This review describes relevant genetic variants that may help identify and guide the management of hereditary thoracic aortic aneurysms and dissections.

中文翻译：

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主动脉病变的遗传学：遗传性胸主动脉瘤和解剖。

主动脉病包括各种遗传性和后天性病理，它们增加了威胁生命的解剖或破裂的风险。确定具有遗传性胸主动脉瘤和解剖（HTAAD）的个体以进行纵向监测，药物治疗或选择性和预防性修复至关重要，这对于降低与心血管相关的死亡率以及因解剖和破裂引起的并发症的风险至关重要。在过去的几十年中，已经确定了与HTAAD相关的众多基因中的致病变异。遗传诊断可以帮助对患者风险进行分层，并在药物治疗，预防性外科手术修复的时间以及纵向监视和成像方面提供指导。已发现牵连的基因及其相关蛋白可通过多种途径起作用，细胞和结构成分与转化生长因子β（TGF-β）信号通路，血管平滑肌细胞收缩装置的破坏以及细胞外基质稳态的主要破坏有关。这篇综述描述了相关的遗传变异，可能有助于识别和指导遗传性胸主动脉瘤和解剖的管理。