Referenced in: none

Automatically associated channels: Kir6.1

Title: Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel.

Authors: Michel Haïssaguerre, Stéphanie Chatel, Frederic Sacher, Rukshen Weerasooriya, Vincent Probst, Gildas Loussouarn, Marc Horlitz, Ruedige Liersch, Eric Schulze-Bahr, Arthur Wilde, Stefan Kääb, Joseph Koster, Yoram Rudy, Hervé Le Marec, Jean Jacques Schott

Journal, date & volume: J. Cardiovasc. Electrophysiol., 2009 Jan , 20, 93-8

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/19120683

Abstract
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.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.