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利用遗传学进行遗传性胸主动脉疾病的个性化管理:我们如何实现这一目标?

Use of genetics for personalized management of heritable thoracic aortic disease: how do we get there?

作者信息

Milewicz Dianna M, Regalado Ellen S

机构信息

John Ritter Research Program in Aortic and Vascular Diseases, Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Tex.

John Ritter Research Program in Aortic and Vascular Diseases, Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Tex.

出版信息

J Thorac Cardiovasc Surg. 2015 Feb;149(2 Suppl):S3-5. doi: 10.1016/j.jtcvs.2014.07.070. Epub 2014 Aug 5.

DOI:10.1016/j.jtcvs.2014.07.070
PMID:25218541
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4354949/
Abstract

The major diseases affecting the thoracic aorta are aortic aneurysms and acute aortic dissections. Medical treatments can slow the enlargement of aneurysms, but the mainstay of treatment to prevent premature death resulting from dissection is surgical repair of the thoracic aortic aneurysm, which is typically recommended when the aortic diameter reaches 5.0 to 5.5 cm. Studies of patients with acute aortic dissections, however, indicate that as many as 60% of dissections occur at aortic diameters smaller than 5.5 cm. Clinical predictors are therefore needed to distinguish those at risk for dissection at an aortic diameter smaller than 5.0 cm and to determine the aortic diameter that justifies the risk of surgical repair to prevent an acute aortic dissection. Data from genetic studies during the past decade have established that mutations in specific genes can distinguish patients at risk for the disease and predict the risk of early dissection at diameters smaller than 5.0 cm. This information has the potential to optimize the timing of aortic surgery to prevent acute dissections.

摘要

影响胸主动脉的主要疾病是主动脉瘤和急性主动脉夹层。药物治疗可以减缓动脉瘤的扩大,但预防夹层导致过早死亡的主要治疗方法是胸主动脉瘤的手术修复,当主动脉直径达到5.0至5.5厘米时通常建议进行手术。然而,对急性主动脉夹层患者的研究表明,多达60%的夹层发生在主动脉直径小于5.5厘米时。因此,需要临床预测指标来区分主动脉直径小于5.0厘米时发生夹层风险的患者,并确定证明手术修复风险合理以预防急性主动脉夹层的主动脉直径。过去十年的基因研究数据表明,特定基因的突变可以区分有疾病风险的患者,并预测直径小于5.0厘米时早期夹层的风险。这些信息有可能优化主动脉手术的时机以预防急性夹层。

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