PDF(Pubmed)
Abstract：
Congenital heart defects (CHD) are the most common congenital abnormality, with an overall global birth prevalence of 9.41 per 1000 live births. The etiology of CHDs is complex and still poorly understood. Environmental factors account for about 10% of all cases, while the rest are likely explained by a genetic component that is still under intense research. Transcription factors and signaling molecules are promising candidates for studies regarding the genetic burden of CHDs. The present narrative review provides an overview of the current knowledge regarding some of the genetic mechanisms involved in the embryological development of the cardiovascular system. In addition, we reviewed the association between the genetic variation in transcription factors and signaling molecules involved in heart development, including TBX5, GATA4, NKX2-5 and CRELD1, and congenital heart defects, providing insight into the complex pathogenesis of this heterogeneous group of diseases. Further research is needed in order to uncover their downstream targets and the complex network of interactions with non-genetic risk factors for a better molecular-phenotype correlation.
摘要：
先天性心脏病（CHD）是最常见的先天性异常，全球总体出生患病率为9.41/1000活产。CHD的病因复杂，仍然知之甚少。环境因素约占所有病例的10%,而其余的可能是由仍在深入研究中的遗传成分解释的。转录因子和信号分子是有关CHD遗传负担研究的有希望的候选者。本叙述性综述概述了有关心血管系统胚胎发育中某些遗传机制的最新知识。此外,我们回顾了转录因子的遗传变异和参与心脏发育的信号分子之间的关联，包括TBX5，GATA4，NKX2-5和CRELD1，以及先天性心脏病，提供对这一异质性疾病组的复杂发病机制的见解。需要进一步的研究来揭示它们的下游靶标以及与非遗传风险因素相互作用的复杂网络，以获得更好的分子-表型相关性。
