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摘要: 先天性心脏病(congenital heart disease，CHD)是最常见的先天性缺陷类型，其病因错综复杂，包括遗传因素、非遗传因素及环境因素。参与心脏早期形态发生的转录因子、特异基因和信号通路分子的表达失调均可导致CHD。深入了解CHD的发病机制有助于采取更有效的干预策略和治疗手段，但由于CHD致病机制复杂，目前对其认识仍十分有限。因此，本文将探讨现阶段与CHD发生发展相关的遗传因素、表观遗传因素及母体营养素与代谢产物，并概述目前常用的探究CHD致病机制的研究模型，以期为临床诊疗提供理论依据。Abstract: Congenital heart diseases (CHD) are the most common birth defects worldwide. The etiology of CHD is multifactorial and intricate. Cardiac transcription factors, developmental genes and key molecules of signaling pathways required for early cardiac morphogenesis have been extensively studied in human CHD. Due to the complex etiology, the causes for most of the CHD cases are far from known. A better knowledge of the molecular mechanisms of CHD would enable us to improve intervening strategies and treatment. This review discusses the current progress in the study of the genetics, epigenetic mechanisms, and maternal nutrition underlying CHD, as well as their potential interactions. Besides, we also review the current in vivo/vitro genetic CHD models that can be used for better understanding of the molecular basis underlying CHD, hoping to provide novel therapeutic strategies for clinic treatment.
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Key words:
- congenital heart disease /
- etiology /
- genetics /
- epigenetics
作者贡献: 艾珊珊负责构思并撰写论文; 何爱彬负责修订及审校论文。利益冲突: 无 -
图 1 不同类型心脏畸形占先天性心脏病的比率[4]
CoA：主动脉缩窄; ASD：房间隔缺损; TOF：法洛四联症; TGA：大动脉移位; PDA：动脉导管未闭; PS：肺动脉狭窄; AS：主动脉狭窄; AVSD：房室间隔缺损; HLHS：左心发育不全综合征; VSD：室间隔缺损
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