儿童心肌致密化不全遗传学发病机制的研究进展

Research progress on genetic pathogenesis of non-compaction of the ventricular myocardium in children

心肌致密化不全又称海绵状心肌病, 大部分患者以左心室心肌致密化不全(LVNC)为主。其在儿童心肌病中的发病率仅次于扩张型心肌病和肥厚型心肌病, 病理改变为突出的肌小梁和深陷的隐窝。大部分患儿需要面临严重的并发症, 如心力衰竭、严重的心律失常以及血栓等。因此, 儿童LVNC的发病机制研究显得尤为重要。心肌致密化不全可能为胚胎发育早期心肌致密化过程停止所致, 因此心肌致密化不全遗传学发病机制的研究尤为重要。本文旨在对儿童LVNC的遗传学发病机制进行综述, 为未来LVNC发病机制研究以及基因学治疗提供更多思路。

Non-compaction of the ventricular myocardium(NVM),also known as cavernous cardiomyopathy,is dominated by left ventricular non-compaction(LVNC)in most patients.The incidence of NVM in childhood cardiomyopathy is second only to dilated cardiomyopathy and hypertrophic cardiomyopathy,and the pathological changes are prominent trabeculae and deep intertrabecular clefts.Most pediatric patients have serious complications,such as heart failure,serious arrhythmias,and thrombus.Therefore,it is particularly important to study the pathogenesis of LVNC in children.NVM may be caused by the cessation of myocardial compaction in early embryonic development,so the genetic pathogenesis of NVM is particularly important.This review aimed to elucidate the genetic pathogenesis of LVNC in children,and provide more ideas for the pathogenesis and genetic therapy of LVNC in the future.