Muntean Iolanda, Togănel Rodica, Benedek Theodora
Institute of Cardiovascular Diseases and Transplantation, Clinic of Pediatric Cardiology, University of Medicine and Pharmacy Tîrgu Mureş, 50 Gh Marinescu St, 540136, Tirgu Mures, Romania.
Clinic of Cardiology, University of Medicine and Pharmacy Tîrgu Mureş, Tirgu Mures, Romania.
Biochem Genet. 2017 Apr;55(2):105-123. doi: 10.1007/s10528-016-9780-7. Epub 2016 Nov 2.
Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.
先天性心脏病是最常见的先天性畸形，是婴儿发病和死亡的重要原因。先天性心脏病是一组心脏畸形，包括间隔缺损、瓣膜缺损和流出道畸形。尽管确切机制可能是多因素的，但先天性心脏病的确切遗传、表观遗传或环境基础仍知之甚少。然而，包括拷贝数变异、单核苷酸多态性、下一代测序在内的新技术的发展正在加速心脏畸形遗传病因的检测。最近的研究表明，小非编码RNA（微小RNA）在先天性心脏病中发挥作用。最近描述的表观遗传因素也被发现有助于心脏形态发生。在这篇综述中，我们介绍了先天性心脏病过去和最近的遗传学发现。
