Among the inherited ion channelopathies associated with potentially life-threatening ventricular arrhythmia syndromes in nominally structurally normal hearts are the J wave syndromes, which include the Brugada (BrS) and early repolarization (ERS) syndromes. These ion channelopathies are responsible for sudden cardiac death (SCD), most often in young adults in the third and fourth decade of life. Our principal goal in this review is to briefly outline the clinical characteristics, as well as the molecular, ionic, cellular, and genetic mechanisms underlying these primary electrical diseases that have challenged the cardiology community over the past two decades. In addition, we discuss our recently developed whole-heart experimental model of BrS, providing compelling evidence in support of the repolarization hypothesis for the BrS phenotype as well as novel findings demonstrating that voltage-gated sodium and transient outward current channels can modulate each other's function via trafficking and gating mechanisms with implications for improved understanding of the genetics of both cardiac and neuronal syndromes.

在与名义上结构正常的心脏中可能危及生命的室性心律失常综合征相关的遗传性离子通道病中，有 J 波综合征，其中包括 Brugada (BrS) 和早期复极 (ERS) 综合征。这些离子通道病会导致心源性猝死 (SCD)，最常见于 30 岁和 40 岁的年轻人。我们在这篇综述中的主要目标是简要概述这些原发性电性疾病的临床特征，以及分子、离子、细胞和遗传机制，这些疾病在过去二十年中一直挑战着心脏病学界。此外，我们讨论了我们最近开发的 BrS 全心实验模型，为支持 BrS 表型的复极化假说提供了令人信服的证据，并证明电压门控钠通道和瞬态外向电流通道可以相互调节功能通过贩运和门控机制，有助于提高对心脏和神经元综合征遗传学的理解。