Abstract：
Congenital heart disease (CHD) affects approximately 1 % of live births worldwide, making it the most common congenital anomaly in newborns. Recent advancements in genetics and genomics have significantly deepened our understanding of the genetics of CHDs. While the majority of CHD etiology remains unclear, evidence consistently indicates that genetics play a significant role in its development. CHD etiology holds promise for enhancing diagnosis and developing novel therapies to improve patient outcomes. In this review, we explore the contributions of both monogenic and polygenic factors of CHDs and highlight the transformative impact of emerging technologies on these fields. We also summarized the state-of-the-art techniques, including targeted next-generation sequencing (NGS), whole genome and whole exome sequencing (WGS, WES), single-cell RNA sequencing (scRNA-seq), human induced pluripotent stem cells (hiPSCs) and others, that have revolutionized our understanding of cardiovascular disease genetics both from diagnosis perspective and from disease mechanism perspective in children and young adults. These molecular diagnostic techniques have identified new genes and chromosomal regions involved in syndromic and non-syndromic CHD, enabling a more defined explanation of the underlying pathogenetic mechanisms. As our knowledge and technologies continue to evolve, they promise to enhance clinical outcomes and reduce the CHD burden worldwide.
摘要：
先天性心脏病（CHD）影响全球约1％的活产，使其成为新生儿中最常见的先天性异常。遗传学和基因组学的最新进展大大加深了我们对CHD遗传学的理解。虽然大多数CHD病因仍不清楚，证据一致表明，遗传学在其发展中起着重要作用。CHD病因有望增强诊断并开发新的疗法以改善患者的预后。在这次审查中,我们探讨了CHD的单基因和多基因因素的贡献，并强调了新兴技术对这些领域的革命性影响。我们还总结了最先进的技术，包括靶向下一代测序（NGS），全基因组和全外显子组测序（WGS，WES),单细胞RNA测序（scRNA-seq），人诱导多能干细胞（hiPSCs）和其他，从儿童和年轻人的诊断角度和疾病机制角度，彻底改变了我们对心血管疾病遗传学的理解。这些分子诊断技术已经确定了综合征型和非综合征型CHD涉及的新基因和染色体区域。能够对潜在的致病机制进行更明确的解释。随着我们的知识和技术不断发展，它们有望在全球范围内提高临床结局并减轻CHD负担.
