Nimani Saranda, Barbieri Miriam, Rieder Marina, Odening Katja E
University Hopital Bern and University of Bern Department of Cardiology and Department of Physiology Bühlplatz 5 3012 Bern Switzerland.
Med Genet. 2025 Jul 17;37(3):189-196. doi: 10.1515/medgen-2025-2015. eCollection 2025 Jul.
The long QT syndrome is a genetic arrhythmia disorder that predisposes patients to ventricular arrhythmias and sudden cardiac death. Pronounced genotype-specific differences in molecular mechanisms, arrhythmia triggers, and arrhythmogenic risk are well established, making the disease a prime candidate for precision medicine approaches in cardiology. In this review, we first highlight the genetic basis of long QT syndrome, clinical genotype differences, and risk prediction approaches. In the second part, we discuss the current standard therapies applicable to all genotypes, as well as both established and emerging gene-specific precision therapy approaches.
长QT综合征是一种遗传性心律失常疾病,使患者易患室性心律失常和心源性猝死。在分子机制、心律失常触发因素和致心律失常风险方面,明显的基因型特异性差异已得到充分证实,这使得该疾病成为心脏病学精准医疗方法的主要候选对象。在本综述中,我们首先强调长QT综合征的遗传基础、临床基因型差异和风险预测方法。在第二部分,我们讨论适用于所有基因型的当前标准疗法,以及既定的和新兴的基因特异性精准治疗方法。