Nader Amirali, Massumi Ali, Cheng Jie, Razavi Mehdi
Department of Cardiac Electrophysiology, Texas Heart Institute at St. Luke's Episcopal Hospital, Houston, Texas 77030, USA.
Tex Heart Inst J. 2007;34(1):67-75.
Inherited arrhythmic disorders comprise a group of syndromes with unique genetic abnormalities and presentations but with very similar clinical outcomes and complications, the most terrifying of which are life-threatening arrhythmias and sudden cardiac death. Advances in molecular biology have enabled us to define and pinpoint many such disorders, which were previously labeled as idiopathic, to specific genes on various chromosomes. The current trend in the management of these potentially deadly disorders is to use pharmacotherapy (antiarrhythmic agents) and defibrillators for the prevention of sudden death; however, targeted therapy at a molecular level appears to be the path of the future. Herein, we review long QT and Brugada syndromes and focus on the genetics, pathophysiology, and clinical manifestations of these inherited arrhythmogenic disorders that affect patients with structurally normal hearts.
遗传性心律失常疾病包括一组具有独特基因异常和临床表现的综合征，但临床结局和并发症非常相似，其中最可怕的是危及生命的心律失常和心源性猝死。分子生物学的进展使我们能够将许多以前被标记为特发性的此类疾病，明确到不同染色体上的特定基因。目前治疗这些潜在致命疾病的趋势是使用药物治疗（抗心律失常药物）和除颤器预防猝死；然而，分子水平的靶向治疗似乎是未来的方向。在此，我们回顾长QT综合征和Brugada综合征，并重点关注这些影响心脏结构正常患者的遗传性致心律失常疾病的遗传学、病理生理学和临床表现。
