Department of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam 1105 AZ, The Netherlands.
Department of Human Genetics, Amsterdam Cardiovascular Sciences, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam 1105 AZ, The Netherlands.
Dis Model Mech. 2023 May 1;16(5). doi: 10.1242/dmm.050101. Epub 2023 May 17.
The sinoatrial node (SAN) is the primary pacemaker of the mammalian heart, initiating its electrical activation and ensuring that the heart's functional cardiac output meets physiological demand. SAN dysfunction (SND) can cause complex cardiac arrhythmias that can manifest as severe sinus bradycardia, sinus arrest, chronotropic incompetence and increased susceptibility to atrial fibrillation, among other cardiac conditions. SND has a complex aetiology, with both pre-existing disease and heritable genetic variation predisposing individuals to this pathology. In this Review, we summarize the current understanding of the genetic contributions to SND and the insights that they provide into this disorder's underlying molecular mechanisms. With an improved understanding of these molecular mechanisms, we can improve treatment options for SND patients and develop new therapeutics.
窦房结(SAN)是哺乳动物心脏的主要起搏点,它启动心脏的电激活,并确保心脏的功能心输出量满足生理需求。SAN 功能障碍(SND)可导致复杂的心律失常,表现为严重窦性心动过缓、窦性停搏、变时功能不全和增加心房颤动等心脏疾病的易感性。SND 的病因复杂,既有先前存在的疾病,也有遗传性遗传变异使个体易患这种疾病。在这篇综述中,我们总结了遗传因素对 SND 的贡献的现有认识,以及它们对这种疾病潜在分子机制的深入了解。通过更好地了解这些分子机制,我们可以改善 SND 患者的治疗选择,并开发新的治疗方法。