主动脉夹层中的遗传性致病因素

The hereditary pathogenic factors of aortic dissetion

主动脉夹层是心血管系统中最危重的一种急症,诊断难度大,死亡率高,预后差。遗传性致病因素是主动脉夹层的重要致病原因。既往在基于家族性主动脉夹层的家系研究中,已经筛选出了一系列主动脉夹层致病基因,包括:转化生长因子β(TGF-β)信号通路相关基因,平滑肌收缩结构编码基因,细胞外基质编码基因等。本文旨在归纳总结目前已经明确的主动脉夹层致病相关基因及遗传病,为进一步认识该病的致病机理和基因诊断提供帮助。

Aortic dissection（AD） is one of the most criticalcardiovascular emergency.This disease isdifficult to diagnosis in time and related with poor prognosis and high mortality.As is known,hereditary factors play an important role in the pathogenesis of AD.A group of AD-causative genes were identified in the past decade based on pedigree studies in familial AD patients.These pathogenic genes including genes in transforming growth factor beta（TGF-β） signaling pathway,in smooth muscle cell contraction or metabolism and in the extracellular matrix.The aim of this reviews to conclude the known AD-related pathogenic genes and syndromes.This study will help to understand the pathogenic mechanism of AD and will facilitate the genetic diagnosis in the future.