法洛四联症发病相关因素的研究进展

Pathogenic factors associated with tetralogy of Fallot

法洛四联症(tetralogy of Fallot,TOF)是最常见的紫绀型先天性心脏病,其病理解剖为室间隔缺损、主动脉骑跨、肺动脉狭窄以及右心室肥厚。目前外科手术矫正TOF的成功率明显提高,但患儿术后仍有发生并发症的风险。研究TOF发病因素对其遗传咨询、疾病预防有重要意义。TOF的病因机制复杂,研究发现NKX2-5、Jagged-1、GATA-4、TBX1等基因与TOF发病相关;母孕期暴露包括有害环境暴露、感染及其他疾病、关键营养素缺乏等也可增加其发病风险。该文重点阐述TOF发病相关因素的研究进展。

Tetralogy of Fallot(TOF)is the most common cyanotic congenital heart disease with pathological anatomy of ventricular septal defect,overriding aorta,pulmonary stenosis,and right ventricular hypertrophy.At present,the success rate of surgical repair of TOF has been significantly improved,but there is risk of complications after surgery.The study of the pathogenesis of TOF is important for disease prevention and genetic counseling.The etiological mechanism of TOF is multifactorial.It has been reported that NKX2-5,Jagged-1,GA- TA-4,TBX1 are associated with TOF.Exposure during pregnancy,including harmful environmental exposure, diseases and infections,and lack of key nutritional factors can also increase the risk of morbidity.This article focuses on the progress of research on pathogenic factors associated with TOF.