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基因诊断如何为手术时机的决策提供依据?

How can genetic diagnosis inform the decision of when to operate?

作者信息

Ouzounian Maral, LeMaire Scott A

机构信息

Division of Cardiovascular Surgery, Peter Munk Cardiac Centre, Toronto General Hospital, Toronto, Canada.

Department of Surgery, University of Toronto, Toronto, Canada.

出版信息

J Vis Surg. 2018 Apr 3;4:68. doi: 10.21037/jovs.2018.03.08. eCollection 2018.

Abstract

Genetic discovery for heritable thoracic aortic disease (HTAD) has been progressing at a brisk pace. Surgical management of thoracic aortic aneurysms and dissections has become more personalized, with genetic factors increasingly informing the decision of when to operate on patients. An improved understanding of genotype-phenotype correlations in patients with HTAD will ultimately lead to gene- and mutation-specific recommendations for surgical repair. Until more robust data from larger cohorts can inform our decisions, patients with HTAD should be seen by an aortic specialist for a tailored approach to elective surgical repair.

摘要

遗传性胸主动脉疾病(HTAD)的基因研究进展迅速。胸主动脉瘤和主动脉夹层的外科治疗已变得更加个性化,遗传因素在决定患者何时进行手术方面发挥着越来越重要的作用。对HTAD患者基因型与表型相关性的深入了解最终将为手术修复提供针对特定基因和突变的建议。在有更强大的大规模队列数据为我们的决策提供依据之前,HTAD患者应由主动脉专科医生进行评估,以便采取量身定制的择期手术修复方法。

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