Congenital heart disease (CHD) is the common birth defect worldwide. Despite its recognized burden on public health, the etiology in the vast majority of individuals remains unknown. Chromosomal abnormality plays an important role, frequently observed as large cytogenetically visible rearrangement or small submicroscopic structural variation in the genome. Several genomic disorders are now recognized that are increasingly responsible for CHD with variable penetrance. Single gene disorders, epigenetic alterations, and environmental etiologies are also significant contributors. Our understanding of the genetic basis of CHD has increased exponentially with the escalating use of next generation sequencing to identify ever so small submicroscopic genomic imbalances at the level of coding exons in CHD. This review focuses on genomic disorders other than 22q11.2 deletion, that are major players in the etiology of human cardiac malformations.

中文翻译：

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其他基因组疾病和先天性心脏病。

先天性心脏病（CHD）是全世界常见的先天性缺陷。尽管对公众健康造成了负担，但绝大多数个人的病因仍然未知。染色体异常起着重要的作用，经常被观察为基因组中大的细胞遗传学可见的重排或小的亚显微结构变异。现已认识到几种基因组疾病正越来越多地导致冠心病伴有外在变化。单基因疾病，表观遗传学改变和环境病因也是重要原因。随着对下一代测序的不断使用，我们对冠心病的遗传基础的了解呈指数增长，从而在冠心病的编码外显子水平上鉴定出如此微小的亚显微基因组失衡。