完全性肺静脉异位引流的发病机制研究进展

完全性肺静脉异位引流(total anomalous pulmonary venous connection,TAPVC)是一类罕见而又严重的先天性心脏病。TAPVC是因肺静脉未能与左心房相连,而直接与右心房或体循环静脉系统连接,导致该类患儿生长发育明显受限,生后全身紫绀及缺氧表现逐渐加重,严重威胁患儿的生命,需尽早手术干预。TAPVC的发病原因和机制尚未完全明确,近年来随着现代分子遗传学的发展,对其的发病机制有了初步的认识,本文就TAPVC发病机制研究进展作一概述。

Research progress in pathogenesis of total anomalous pulmonary venous connection

Total anomalous pulmonary venous connection (TAPVC) is a rare and serious congenital heartdisease, in which none of the pulmonary veins connect to the left atrium and instead directly connectto the right atrium or the systemic venous system. The growth and development of children with TAPVCis significantly limited. TAPVC-induced cyanosis and tissue hypoxia is gradually worsened after birth, which seriously threatens the life of those affected. TAPVC is an absolute indication for surgical repair. However, itscauses and mechanisms are still unclear. In recent years, the development of modern moleculargenetics has led to a preliminary understanding of the pathogenesis of TAPVC. This article reviews research progress in the pathogenesis of TAPVC and clinical implications.