From diagnostic testing to precision medicine: the evolving role of genomics in cardiac channelopathies and cardiomyopathies in children.
From diagnostic testing to precision medicine: the evolving role of genomics in cardiac channelopathies and cardiomyopathies in children.
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DOI：
10.1016/j.gde.2022.101978
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发表时间：
2022-10
影响因子：
4
通讯作者：
Landstrom, Andrew P.
中科院分区：
文献类型：
--
作者：
Bidzimou, Minu-Tshyeto K.;Landstrom, Andrew P.
小儿心源性猝死（SCD）是儿童或青少年由于假定的心脏病原因而突然意外死亡。儿童 SCD 的遗传原因主要是心肌病和心脏离子通道病。这篇综述阐述了确定已确定的和新出现的通道病和心肌病的遗传原因的最新进展，以及更广泛的基因组测序如何揭示遗传结构和疾病表现之间复杂的相互作用。随着与疾病相关的变异和基因不断进化，我们讨论了解决不确定意义变异的创新模型和实验平台。最后，我们强调了心血管疾病致病基因中偶然发现的变异这一日益严重的问题，并回顾了确定这些变异是否最终导致渗透性疾病的创新方法。总的来说，我们试图阐明将遗传学在诊断心肌病和离子通道病中的传统作用与真正的风险预测精准医学之一联系起来的前景和固有的挑战。
Pediatric sudden cardiac death (SCD) is the sudden unexpected death of a child or adolescent due to a presumed cardiac etiology. Heritable causes of pediatric SCD are predominantly cardiomyopathies and cardiac ion channelopathies. This review illustrates recent advances in determining the genetic cause of established and emerging channelopathies and cardiomyopathies, and how broader genomic sequencing is uncovering complex interactions between genetic architecture and disease manifestation. We discuss innovative models and experimental platforms for resolving the variant of uncertain significance as both the variants and genes associated with disease continue to evolve. Finally, we highlight the growing problem of incidentally identified variants in cardiovascular disease-causing genes and review innovative methods to determining whether these variants may ultimately result in penetrant disease. Overall, we seek to illustrate both the promise, and inherent challenges, in bridging the traditional role for genetics in diagnosing cardiomyopathies and channelopathies to one of true risk-predictive precision medicine.
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