Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia.
Faculty of Medicine and Heath, The University of Sydney, Sydney, New South Wales, Australia.
Intern Med J. 2019 Jul;49(7):826-833. doi: 10.1111/imj.14359.
Sudden cardiac death (SCD) is a devastating and all too common result of both acquired and genetic heart diseases. The profound sadness endured by families is compounded by the risk many of these deaths confer upon surviving relatives. For those with known cardiac disease, disease-specific therapy and risk stratification are key to reducing sudden death. For families of a SCD victim, uncovering a definitive cause of death can help relieve the agonising uncertainty and is a vital first step in screening surviving relatives and instituting therapy to reduce SCD risk. Increasing knowledge about the molecular mechanisms and genetic drivers of malignant arrhythmias in the diverse clinical entities that can cause SCD is vital if we are to optimise risk stratification and personalise patient care. Advances in diagnostic tools, disease-specific therapy and defibrillator technology are improving outcomes for patients and their families but there is still much progress to be made.
心脏性猝死(SCD)是获得性和遗传性心脏病的一种毁灭性且非常常见的后果。许多此类死亡给幸存亲属带来的风险,使家庭承受着更深切的悲痛。对于已知患有心脏病的患者,针对特定疾病的治疗和风险分层是降低猝死风险的关键。对于 SCD 受害者的家属来说,确定明确的死因有助于减轻痛苦的不确定性,这是筛查幸存亲属并实施治疗以降低 SCD 风险的重要第一步。如果我们要优化风险分层和个性化患者护理,就必须深入了解导致 SCD 的各种临床实体中恶性心律失常的分子机制和遗传驱动因素。诊断工具、针对特定疾病的治疗和除颤器技术的进步正在改善患者及其家属的预后,但仍有许多工作要做。