KCNJ2 Variant of Unknown Significance Reclassified as Long QT Syndrome Causing Ventricular Fibrillation
Copyright policy )KCNJ2 Variant of Unknown Significance Reclassified as Long QT Syndrome Causing Ventricular Fibrillation
KCNJ2 is the only gene implicated in Andersen-Tawil syndrome. Sudden cardiac arrest is rare in Andersen-Tawil syndrome. However, sudden cardiac arrest is often the index presentation in other forms of long QT syndrome. We present an unreported variant in the KCNJ2 gene, associated with long QT syndrome, that presented with ventricular fibrillation. Exercise testing and adrenaline infusion were useful in assigning pathogenicity to this variant of unknown significance.
- Western University Canada
Andersen Syndrome, DNA Mutational Analysis, DNA, Middle Aged, Diagnosis, Differential, Echocardiography, Mutation, Ventricular Fibrillation, Electrocardiography, Ambulatory, Humans, Female, Potassium Channels, Inwardly Rectifying
Andersen Syndrome, DNA Mutational Analysis, DNA, Middle Aged, Diagnosis, Differential, Echocardiography, Mutation, Ventricular Fibrillation, Electrocardiography, Ambulatory, Humans, Female, Potassium Channels, Inwardly Rectifying
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