Nagy Orsolya, Baráth Sándor, Ujfalusi Anikó
Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Hungary.
EJIFCC. 2019 Jun 24;30(2):165-178. eCollection 2019 Jun.
Congenital heart diseases (CHDs) are the leading inherited cause of perinatal and infant mortality. CHD refers to structural anomalies of the heart and blood vessels that arise during cardiac development and represents a broad spectrum of malformations, including septal and valve defects, lesions affecting the outflow tract and ventricules. Advanced treatment strategies have greatly improved life expectancy and led to expanded population of adult patients with CHD. Thus, a better understanding of the pathogenesis and molecular mechanisms underlying CHDs is essential to improve the diagnosis and prognosis of patients. The etiology of CHD is largely unknown, genetic and environmental factors may contribute to the disease. In addition to the mutations affecting genomic DNA, epigenetic changes are being increasingly acknowledged as key factors in the development and progression of CHDs. The posttranscriptional regulation of gene expression by microRNAs (miRs) controls the highly complex multi-cell lineage process of cardiac tissue formation. In recent years, multiplex experimental models have provided evidence that changes in expression levels of miRs are associated with human cardiovascular disease, including CHD. The newly described correlations between miRs and heart development suggest the potential importance of miRs as diagnostic markers in human cardiovascular diseases. In the future, more intensive research is likely to be carried out to clarify their contribution to personalized management and treatment of CHD patients. In this paper, we discuss the current knowledge on the causative role of miRs in cardiac development and CHDs.
先天性心脏病（CHD）是围产期和婴儿死亡的主要遗传性原因。CHD是指心脏和血管在心脏发育过程中出现的结构异常，代表了广泛的畸形，包括间隔和瓣膜缺陷、影响流出道和心室的病变。先进的治疗策略极大地提高了预期寿命，并导致成年CHD患者群体不断扩大。因此，更好地了解CHD的发病机制和分子机制对于改善患者的诊断和预后至关重要。CHD的病因在很大程度上尚不清楚，遗传和环境因素可能导致该病。除了影响基因组DNA的突变外，表观遗传变化越来越被认为是CHD发生和发展的关键因素。微小RNA（miR）对基因表达的转录后调控控制着心脏组织形成的高度复杂的多细胞谱系过程。近年来，多种实验模型提供了证据，表明miR表达水平的变化与包括CHD在内的人类心血管疾病有关。最近描述的miR与心脏发育之间的相关性表明，miR作为人类心血管疾病诊断标志物具有潜在的重要性。未来，可能会开展更深入的研究，以阐明它们对CHD患者个性化管理和治疗的贡献。在本文中，我们讨论了目前关于miR在心脏发育和CHD中的致病作用的知识。
