Ventricular Fibrillation with Prominent Early Repolarization Associated with a Rare Variant of KCNJ8/KATP Channel
MICHEL HAÏSSAGUERRE M.D.
Université Bordeaux, Bordeaux–Pessac, France
Search for more papers by this authorSTÉPHANIE CHATEL M.S.
INSERM, UMR915, L'institut du Thorax, Nantes, France
CNRS, ERL3147, Nantes, France
Université de Nantes, Nantes, France
Search for more papers by this authorFREDERIC SACHER M.D.
Université Bordeaux, Bordeaux–Pessac, France
Search for more papers by this authorRUKSHEN WEERASOORIYA M.D.
Université Bordeaux, Bordeaux–Pessac, France
Search for more papers by this authorVINCENT PROBST M.D., Ph.D.
INSERM, UMR915, L'institut du Thorax, Nantes, France
CNRS, ERL3147, Nantes, France
Université de Nantes, Nantes, France
Service de Cardiologie, L'institut du Thorax, CHU de Nantes, Nantes, France
Search for more papers by this authorGILDAS LOUSSOUARN Ph.D., M.D.
INSERM, UMR915, L'institut du Thorax, Nantes, France
CNRS, ERL3147, Nantes, France
Université de Nantes, Nantes, France
Search for more papers by this authorERIC SCHULZE-BAHR M.D., Ph.D.
Department of Cardiology and Angiology, Hospital of the University of Münster, Münster, Germany
Search for more papers by this authorARTHUR WILDE M.D., Ph.D.
Academic Medical Centre, Amsterdam, The Netherlands
Search for more papers by this authorSTEFAN KÄÄB M.D., Ph.D.
Medizinische Klinik und Poliklinik I Marchioninistraße, Munich, Germany
Search for more papers by this authorJOSEPH KOSTER Ph.D.
Washington University, Saint Louis, Missouri, USA
Search for more papers by this authorYORAM RUDY Ph.D.
Washington University, Saint Louis, Missouri, USA
Search for more papers by this authorHERVÉ LE MAREC M.D., Ph.D.
INSERM, UMR915, L'institut du Thorax, Nantes, France
CNRS, ERL3147, Nantes, France
Université de Nantes, Nantes, France
Service de Cardiologie, L'institut du Thorax, CHU de Nantes, Nantes, France
Search for more papers by this authorJEAN JACQUES SCHOTT Ph.D.
INSERM, UMR915, L'institut du Thorax, Nantes, France
CNRS, ERL3147, Nantes, France
Université de Nantes, Nantes, France
Service de Cardiologie, L'institut du Thorax, CHU de Nantes, Nantes, France
Search for more papers by this authorMICHEL HAÏSSAGUERRE M.D.
Université Bordeaux, Bordeaux–Pessac, France
Search for more papers by this authorSTÉPHANIE CHATEL M.S.
INSERM, UMR915, L'institut du Thorax, Nantes, France
CNRS, ERL3147, Nantes, France
Université de Nantes, Nantes, France
Search for more papers by this authorFREDERIC SACHER M.D.
Université Bordeaux, Bordeaux–Pessac, France
Search for more papers by this authorRUKSHEN WEERASOORIYA M.D.
Université Bordeaux, Bordeaux–Pessac, France
Search for more papers by this authorVINCENT PROBST M.D., Ph.D.
INSERM, UMR915, L'institut du Thorax, Nantes, France
CNRS, ERL3147, Nantes, France
Université de Nantes, Nantes, France
Service de Cardiologie, L'institut du Thorax, CHU de Nantes, Nantes, France
Search for more papers by this authorGILDAS LOUSSOUARN Ph.D., M.D.
INSERM, UMR915, L'institut du Thorax, Nantes, France
CNRS, ERL3147, Nantes, France
Université de Nantes, Nantes, France
Search for more papers by this authorERIC SCHULZE-BAHR M.D., Ph.D.
Department of Cardiology and Angiology, Hospital of the University of Münster, Münster, Germany
Search for more papers by this authorARTHUR WILDE M.D., Ph.D.
Academic Medical Centre, Amsterdam, The Netherlands
Search for more papers by this authorSTEFAN KÄÄB M.D., Ph.D.
Medizinische Klinik und Poliklinik I Marchioninistraße, Munich, Germany
Search for more papers by this authorJOSEPH KOSTER Ph.D.
Washington University, Saint Louis, Missouri, USA
Search for more papers by this authorYORAM RUDY Ph.D.
Washington University, Saint Louis, Missouri, USA
Search for more papers by this authorHERVÉ LE MAREC M.D., Ph.D.
INSERM, UMR915, L'institut du Thorax, Nantes, France
CNRS, ERL3147, Nantes, France
Université de Nantes, Nantes, France
Service de Cardiologie, L'institut du Thorax, CHU de Nantes, Nantes, France
Search for more papers by this authorJEAN JACQUES SCHOTT Ph.D.
INSERM, UMR915, L'institut du Thorax, Nantes, France
CNRS, ERL3147, Nantes, France
Université de Nantes, Nantes, France
Service de Cardiologie, L'institut du Thorax, CHU de Nantes, Nantes, France
Search for more papers by this authorDr. Schulze-Bahr has received research support from the German Research Foundation. Dr. Koster has received research support from an AHA Beginning Grant-in-Aid.
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.
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 KATP channel genes showed missense variant in exon 3 (NC_000012) of the KCNJ8 gene, a subunit of the KATP channel, conferring predisposition to dramatic repolarization changes and ventricular vulnerability.
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