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与胸主动脉瘤和夹层相关的基因:2019年更新及临床意义

Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2019 Update and Clinical Implications.

作者信息

Faggion Vinholo Thais, Brownstein Adam J, Ziganshin Bulat A, Zafar Mohammad A, Kuivaniemi Helena, Body Simon C, Bale Allen E, Elefteriades John A

机构信息

Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut.

Department of Medicine, Johns Hopkins Hospital and Johns Hopkins School of Medicine, Baltimore, Maryland.

出版信息

Aorta (Stamford). 2019 Jun;7(4):99-107. doi: 10.1055/s-0039-3400233. Epub 2019 Dec 16.

Abstract

Thoracic aortic aneurysm is a typically silent disease characterized by a lethal natural history. Since the discovery of the familial nature of thoracic aortic aneurysm and dissection (TAAD) almost 2 decades ago, our understanding of the genetics of this disorder has undergone a transformative amplification. To date, at least 37 TAAD-causing genes have been identified and an estimated 30% of the patients with familial nonsyndromic TAAD harbor a pathogenic mutation in one of these genes. In this review, we present our yearly update summarizing the genes associated with TAAD and the ensuing clinical implications for surgical intervention. Molecular genetics will continue to bolster this burgeoning catalog of culprit genes, enabling the provision of personalized aortic care.

摘要

胸主动脉瘤是一种典型的隐匿性疾病,其自然病程具有致命性。自近20年前发现胸主动脉瘤和夹层(TAAD)的家族性本质以来,我们对这种疾病的遗传学认识经历了变革性的扩展。迄今为止,已鉴定出至少37个导致TAAD的基因,估计30%的家族性非综合征性TAAD患者在这些基因中的一个存在致病突变。在本综述中,我们提供年度更新,总结与TAAD相关的基因以及对手术干预的临床意义。分子遗传学将继续充实这个不断增加的致病基因目录,从而能够提供个性化的主动脉治疗。

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