心肌致密化不全发病机制的研究进展

Advances in the pathogenesis of noncompaction cardiomyopathy

心肌致密化不全(NCCM)是一种以是以心室内异常粗大的肌小梁和交错的深隐窝为特征的心肌病,患者在临床上以心力衰竭、恶性心律失常和血栓形成为主要表现,严重者可发生猝死。目前的治疗方法只能缓解症状,不能根治疾病。现有研究表明,基因突变是导致NCCM发生的重要原因,基因突变导致其编码的蛋白表达出现异常,干扰了心脏的正常发育。此外,NOTCH通路、TBX20/PRDM16/TGF-β通路等信号通路的异常参与了NCCM的发生、发展。近年来,随着对基因表达调控研究的不断深入,表观遗传学已成为NCCM机制研究的新方向。本文旨在对NCCM的发病机制进行综述,以深刻理解NCCM发生发展的病理生理过程,为研究提供更多的思路。

Noncompaction cardiomyopathy(NCCM) is a myocardial abnormality characterized by multiple elongated trabeculae and deep intertrabecular clefts. Patients often suffer from heart failure, malignant arrhythmia, thrombosis and even sudden death. The existing treatments can only relieve symptoms but cannot cure the disease. Recent studies have revealed that gene mutation is an important etiology of NCCM. Aberrant proteins encoded by mutated genes impede the normal process of heart development. In addition, several signaling pathways such as Notch and TBX20/PRDM16/TGF-β are also involved in the progression of the disease.Currently, with the deep understanding of the regulation of gene expression, epigenetics has become a new field for the mechanism study. This review aims to elucidate the pathogenesis of NCCM to come up with profound insight into the pathophysiology of NCCM and provide more directions for further research.