Heritable thoracic aortic disorders

被引：52

作者：

Pyeritz, Reed E. ^{[1
]}

机构：

[1] Univ Penn, Perelman Sch Med, Dept Med, Smilow Ctr Translat Res, Philadelphia, PA 19104 USA

来源：

CURRENT OPINION IN CARDIOLOGY | 2014年 / 29卷 / 01期

关键词：

Loeys-Dietz syndrome; Marfan syndrome; TGF-; signalling; thoracic aortic aneurysm; thoracic aortic dissection; EHLERS-DANLOS-SYNDROME; MARFAN-SYNDROME; ROOT REPLACEMENT; ANEURYSMS; MUTATIONS; DISSECTIONS; PHENOTYPE; INDIVIDUALS; GUIDELINES; LOSARTAN;

D O I：

10.1097/HCO.0000000000000023

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

Purpose of reviewDisease of the wall of the thoracic aorta has many causes: inflammation, infection and atherosclerosis are the most common acquired' causes, but even these have genetic predispositions. This article deals with aortic disease due to mutations in specific genes. The conditions can affect tissues and organs other than the aorta (syndromic) or be limited to the aorta (nonsyndromic).Recent findingsA classification scheme based on the gene is emerging, those that affect primarily the extracellular matrix (e.g., FBN1, COL3A1), TGF- signaling (e.g., TGFBR1, TGFB2), or vascular smooth muscle cell contractility (e.g., ACTA2, MYH11).SummaryUnderstanding pathogenesis is driving the development of novel therapies, such as angiotensin receptor blockade, which is in clinical trial. However, recurrent imaging, restriction of exercise, -adrenergic blockade, and prophylactic surgery remain effective in preventing dissection and sudden death.

引用

页码：97 / 102

页数：6

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