长QT综合症（LQTS）是一种有害的心律失常综合症，主要由离子通道失调表达或异常功能引起。室性心律失常、心悸和晕厥是LQTS亚型之间的主要临床症状。心肌动作电位（AP）延迟去极化导致恶性心律失常的敏感性增加。LQTS有17种明显的子型，与15个常染色体显性基因的单基因突变有关。然而，由于存在修饰基因，相同的突变可能会导致不同携带者的完全不同的临床表现。在本综述中，我们描述了不同离子通道在协调AP中发挥的作用，并讨论了不同类型LQTS的分子病因学。我们强调患者特异性诱导多能干细胞（iPSC）模型在表征与LQTS相关的基本机制方面的用途。为了减轻LQTS的结果，治疗策略最初集中在靶向离子通道活性的小分子上。下一代治疗将从发展LQTS患者特异性iPSC平台中受益，该平台得到了最先进的技术的支持，包括全基因组测序、CRISPR基因组编辑和机器学习。使用LQTS患者特异性心肌细胞进行深层表型学和高通量药物测试，是LQTS精准医学的前景。

Long QT syndrome (LQTS) is a detrimental arrhythmia syndrome mainly caused by dysregulated expression or aberrant function of ion channels. The major clinical symptoms of ventricular arrhythmia, palpitations and syncope vary among LQTS subtypes. Susceptibility to malignant arrhythmia is a result of delayed repolarisation of the cardiomyocyte action potential (AP). There are 17 distinct subtypes of LQTS linked to 15 autosomal dominant genes with monogenic mutations. However, due to the presence of modifier genes, the identical mutation may result in completely different clinical manifestations in different carriers. In this review, we describe the roles of various ion channels in orchestrating APs and discuss molecular aetiologies of various types of LQTS. We highlight the usage of patient-specific induced pluripotent stem cell (iPSC) models in characterising fundamental mechanisms associated with LQTS. To mitigate the outcomes of LQTS, treatment strategies are initially focused on small molecules targeting ion channel activities. Next-generation treatments will reap the benefits from development of LQTS patient-specific iPSC platform, which is bolstered by the state-of-the-art technologies including whole-genome sequencing, CRISPR genome editing and machine learning. Deep phenotyping and high-throughput drug testing using LQTS patient-specific cardiomyocytes herald the upcoming precision medicine in LQTS.