胸主动脉和腹主动脉疾病的遗传学。

Genetics of Thoracic and Abdominal Aortic Diseases.

机构信息

From the Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School; University of Texas Health Science Center at Houston (A.P., D.M.M.).

Department of Surgical Sciences, Dunedin School of Medicine, University of Otago, New Zealand (G.T.J.).

出版信息

Circ Res. 2019 Feb 15;124(4):588-606. doi: 10.1161/CIRCRESAHA.118.312436.

Abstract

Dissections or ruptures of aortic aneurysms remain a leading cause of death in the developed world, with the majority of deaths being preventable if individuals at risk are identified and properly managed. Genetic variants predispose individuals to these aortic diseases. In the case of thoracic aortic aneurysm and dissections (thoracic aortic disease), genetic data can be used to identify some at-risk individuals and dictate management of the associated vascular disease. For abdominal aortic aneurysms, genetic associations have been identified, which provide insight on the molecular pathogenesis but cannot be used clinically yet to identify individuals at risk for abdominal aortic aneurysms. This compendium will discuss our current understanding of the genetic basis of thoracic aortic disease and abdominal aortic aneurysm disease. Although both diseases share several pathogenic similarities, including proteolytic elastic tissue degeneration and smooth muscle dysfunction, they also have several distinct differences, including population prevalence and modes of inheritance.

摘要

主动脉瘤的破裂或夹层仍然是发达国家的主要死亡原因,如果能够识别出高危人群并进行适当的管理,大多数死亡是可以预防的。遗传变异使个体易患这些主动脉疾病。在胸主动脉瘤和夹层(胸主动脉疾病)的情况下,可以使用遗传数据来识别一些高危人群,并决定相关血管疾病的治疗。对于腹主动脉瘤,已经确定了遗传相关性,这为分子发病机制提供了一些见解,但尚未在临床上用于识别腹主动脉瘤的高危人群。本纲要将讨论我们目前对胸主动脉疾病和腹主动脉瘤疾病的遗传基础的理解。尽管这两种疾病具有一些相似的发病机制,包括蛋白水解弹性组织退化和平滑肌功能障碍,但它们也有一些明显的不同,包括人群流行率和遗传方式。

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