PDF(Pubmed)
Abstract：
The clinical significance of optimal pharmacotherapy for inherited arrhythmias such as short QT syndrome (SQTS) and long QT syndrome (LQTS) has been increasingly recognised. The advancement of gene technology has opened up new possibilities for identifying genetic variations and investigating the pathophysiological roles and mechanisms of genetic arrhythmias. Numerous variants in various genes have been proven to be causative in genetic arrhythmias. Studies have demonstrated that the effectiveness of certain drugs is specific to the patient or genotype, indicating the important role of gene-variants in drug response. This review aims to summarize the reported data on the impact of different gene-variants on drug response in SQTS and LQTS, as well as discuss the potential mechanisms by which gene-variants alter drug response. These findings may provide valuable information for future studies on the influence of gene variants on drug efficacy and the development of genotype-guided or precision treatment for these diseases.
摘要：
对于遗传性心律失常，如短QT综合征（SQTS）和长QT综合征（LQTS）的最佳药物治疗的临床意义已得到越来越多的认识。基因技术的进步为识别遗传变异和研究遗传性心律失常的病理生理作用和机制开辟了新的可能性。已证明各种基因中的许多变体是遗传性心律失常的原因。研究表明，某些药物的有效性是特定于患者或基因型，表明基因变异在药物反应中的重要作用。这篇综述旨在总结有关不同基因变体对SQTS和LQTS中药物反应的影响的报道数据。以及讨论基因变异改变药物反应的潜在机制。这些发现可能为未来研究基因变异对药物疗效的影响以及这些疾病的基因型指导或精确治疗的发展提供有价值的信息。
