Genetic, molecular and cellular mechanisms underlying the J wave syndromes.

Genetic, molecular and cellular mechanisms underlying the J wave syndromes.
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DOI:
10.1253/circj.cj-12-0284
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发表时间:
2012
期刊:
Circulation journal : official journal of the Japanese Circulation Society
影响因子:
--
通讯作者:
Antzelevitch C
Antzelevitch C
中科院分区:
其他
文献类型:
--
作者:
Antzelevitch C

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以J点抬高、QRS终末混浊和ST段抬高为特征的早期复极(ER)模式一直被认为是一种良性的心电图表现。十多年前进行的实验研究表明,一些ER病例可能与恶性心律失常有关。最近的研究证实了这一假设,即下侧或下侧导联的ER模式与威胁生命的心律失常的风险增加有关,称为ER综合征(ERS)。由于Brugada综合征(BS)和ERS都有J波加重的特征,所以这些综合征被归类为“J波综合征”。ERS和BS具有相似的心电图特征、临床结果和危险因素,以及与Ito介导的J波放大相关的共同心律失常平台。虽然BS和ERS在异常J波表现的大小和导联位置上有所不同,但它们可以被认为代表了表型表达的连续谱。虽然大多数表现为ER模式的受试者风险很小,甚至没有风险,但越来越多的证据表明,应该仔细关注具有“高风险”ER的受试者。未来的挑战是能够识别那些有心脏性猝死风险的人。在这里,我回顾了J波综合征的临床和遗传学方面,以及潜在的细胞和分子机制。
An early repolarization (ER) pattern in the ECG, distinguished by J-point elevation, slurring of the terminal part of the QRS and ST-segment elevation has long been recognized and considered to be a benign electrocardiographic manifestation. Experimental studies conducted over a decade ago suggested that some cases of ER may be associated with malignant arrhythmias. Validation of this hypothesis was provided by recent studies demonstrating that an ER pattern in the inferior or inferolateral leads is associated with increased risk for life-threatening arrhythmias, termed ER syndrome (ERS). Because accentuated J waves characterize both Brugada syndrome (BS) and ERS, these syndromes have been grouped under the term “J wave syndromes”. ERS and BS share similar ECG characteristics, clinical outcomes and risk factors, as well as a common arrhythmic platform related to amplification of Ito-mediated J waves. Although BS and ERS differ with respect to the magnitude and lead location of abnormal J wave manifestation, they can be considered to represent a continuous spectrum of phenotypic expression. Although most subjects exhibiting an ER pattern are at minimal to no risk, mounting evidence suggests that careful attention should be paid to subjects with “high risk” ER. The challenge ahead is to be able to identify those at risk for sudden cardiac death. Here I review the clinical and genetic aspects as well as the cellular and molecular mechanisms underlying the J wave syndromes.
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