Ventricular Fibrillation with Prominent Early Repolarization Associated with a Rare Variant of KCNJ8/KATP Channel
Ventricular Fibrillation with Prominent Early Repolarization Associated with a Rare Variant of KCNJ8/KATP Channel
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DOI：
10.1111/j.1540-8167.2008.01326.x
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发表时间：
2009-01-01
影响因子：
2.7
通讯作者：
Schott, Jean Jacques
中科院分区：
文献类型：
--
作者：
Haissaguerre, Michel;Chatel, Stephanie;Schott, Jean Jacques
KCNJ8/K-ATP 基因变异和心室颤动。背景：下外侧导联的早期复极最近被认为是与特发性心室颤动 (VF) 相关的常见综合征。我们报告了一名患者的病例，该患者的心电图出现了与复发性心室颤动相关的巨大变化，该患者已鉴定出一种新的遗传变异。病例报告：这名年轻女性（14 岁）在 2001 年因心室颤动猝死后被复苏。所有检查，包括注射麦角新碱的冠状动脉造影、MRI、氟卡尼或异丙肾上腺素输注均正常。该患者多次（> 100 次）室颤复发，对 β 受体阻滞剂、利多卡因/美西律、维拉帕米和胺碘酮无反应。 VF 的复发与早期复极模式的大幅增强有关，有时类似于急性心肌缺血。一次发作期间 J/ST 升高 1.2 mV 的冠状动脉造影是正常的。在 65 个月的随访中，输注异丙肾上腺素可显着抑制电风暴，而奎尼丁可消除所有室颤复发并恢复正常心电图。 K-ATP 通道基因的基因组 DNA 测序显示，KCNJ8 基因（K-ATP 通道的一个亚基）的外显子 3 (NC_000012) 存在错义变异，导致易发生剧烈复极变化和心室脆弱性。（J Cardiovasc Electrophysiol，第 20 卷，第 93-98 页，2009 年 1 月）。
KCNJ8/K-ATP Gene Variant and VF.Background: Early repolarization in the inferolateral leads has been recently recognized as a frequent syndrome associated with idiopathic ventricular fibrillation (VF). We report the case of a patient presenting dramatic changes in the ECG in association with recurrent VF in whom a novel genetic variant has been identified.Case Report: This young female (14 years) was resuscitated in 2001 following an episode of sudden death due to VF. All examinations including coronary angiogram with ergonovine injection, MRI, and flecainide or isoproterenol infusion were normal. The patient had multiple (> 100) recurrences of VF unresponsive to beta-blockers, lidocaine/mexiletine, verapamil, and amiodarone. Recurrences of VF were associated with massive accentuation of the early repolarization pattern at times mimicking acute myocardial ischemia. Coronary angiography during an episode with 1.2 mV J/ST elevation was normal. Isoproterenol infusion acutely suppressed electrical storms, while quinidine eliminated all recurrences of VF and restored a normal ECG over a follow-up of 65 months. Genomic DNA sequencing of K-ATP channel genes showed missense variant in exon 3 (NC_000012) of the KCNJ8 gene, a subunit of the K-ATP channel, conferring predisposition to dramatic repolarization changes and ventricular vulnerability.(J Cardiovasc Electrophysiol, Vol. 20, pp. 93-98, January 2009).