Genetics of congenital heart disease: a narrative review of recent advances and clinical implications.
Genetics of congenital heart disease: a narrative review of recent advances and clinical implications.
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先天性心脏病的遗传学：最新进展和临床意义的叙述性综述。
DOI：
10.21037/tp-21-297
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发表时间：
2021-09
影响因子：
2
通讯作者：
Garg V
中科院分区：
文献类型：
--
作者：
Yasuhara J;Garg V
先天性心脏病（CHD）是人类最常见的出生缺陷，并且仍然是儿童死亡的主要原因。虽然临床治疗的进步提高了CHD儿童的生存率，但成年幸存者通常会出现心脏和非心脏合并症，影响生活质量和预后。因此，冠心病遗传病因的阐明不仅对患者和家庭的遗传咨询具有重要的临床意义，而且还可能通过识别高危患者来影响临床结局。遗传技术的最新进展，包括大规模平行测序，已经允许发现CHD的新遗传病因。虽然变异优先排序和致病性的解释仍然是CHD基因组学领域的挑战，但使用CHD细胞和动物模型的单细胞基因组学和功能基因组学的进展有可能为CHD及其相关发病率的潜在机制提供新的见解。在这篇综述中，我们提供了一个更新的总结，已建立的遗传因素冠心病和讨论的最新进展，我们的理解冠心病的遗传结构沿着目前的挑战与遗传变异的解释。此外，我们强调了遗传发现的临床意义，以预测和潜在地改善冠心病患者的临床结局。
Congenital heart disease (CHD) is the most common human birth defect and remains a leading cause of mortality in childhood. Although advances in clinical management have improved the survival of children with CHD, adult survivors commonly experience cardiac and non-cardiac comorbidities, which affect quality of life and prognosis. Therefore, the elucidation of genetic etiologies of CHD not only has important clinical implications for genetic counseling of patients and families but may also impact clinical outcomes by identifying at-risk patients. Recent advancements in genetic technologies, including massively parallel sequencing, have allowed for the discovery of new genetic etiologies for CHD. Although variant prioritization and interpretation of pathogenicity remain challenges in the field of CHD genomics, advances in single-cell genomics and functional genomics using cellular and animal models of CHD have the potential to provide novel insights into the underlying mechanisms of CHD and its associated morbidities. In this review, we provide an updated summary of the established genetic contributors to CHD and discuss recent advances in our understanding of the genetic architecture of CHD along with current challenges with the interpretation of genetic variation. Furthermore, we highlight the clinical implications of genetic findings to predict and potentially improve clinical outcomes in patients with CHD.
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