title: Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel.
abstract: 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.
  
  
  METHODS
  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.
authors.affiliation: Université Bordeaux, Bordeaux-Pessac, France. michel.haissaguerre@chu-bordeaux.fr
authors.forename: Michel
authors.initials: M
authors.lastname: Haïssaguerre
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Chatel
authors.forename: Frederic
authors.initials: F
authors.lastname: Sacher
authors.forename: Rukshen
authors.initials: R
authors.lastname: Weerasooriya
authors.forename: Vincent
authors.initials: V
authors.lastname: Probst
authors.forename: Gildas
authors.initials: G
authors.lastname: Loussouarn
authors.forename: Marc
authors.initials: M
authors.lastname: Horlitz
authors.forename: Ruedige
authors.initials: R
authors.lastname: Liersch
authors.forename: Eric
authors.initials: E
authors.lastname: Schulze-Bahr
authors.forename: Arthur
authors.initials: A
authors.lastname: Wilde
authors.forename: Stefan
authors.initials: S
authors.lastname: Kääb
authors.forename: Joseph
authors.initials: J
authors.lastname: Koster
authors.forename: Yoram
authors.initials: Y
authors.lastname: Rudy
authors.forename: Hervé
authors.initials: H
authors.lastname: Le Marec
authors.forename: Jean Jacques
authors.initials: JJ
authors.lastname: Schott
mesh_terms: D000293:Adolescent; D004562:Electrocardiography; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D054086:KATP Channels; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015221:Potassium Channels / Q000235:genetics*; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D014693:Ventricular Fibrillation / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D054086:KATP Channels; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying; C117780:mitochondrial K(ATP) channel; C092520:uK-ATP-1 potassium channel