Electrophysiologic characteristics of an Andersen syndrome patient with KCNJ2 mutation
Copyright policy )Electrophysiologic characteristics of an Andersen syndrome patient with KCNJ2 mutation
We report the first case of a patient with Andersen syndrome in whom electrophysiologic study was performed. The patient was a 19-year-old woman with familial periodic paralysis, abnormal QT-U complex, and nonsustained ventricular tachycardia. Mutation analysis revealed a missense mutation in KCNJ2, a component of Kir2.1. Monophasic action potential recordings showed a delayed afterdepolarization (DAD)-like hump in the left ventricle. Initiation of epinephrine-induced premature ventricular contractions always coincided with both the exaggerated DAD-like hump and the U wave. These findings suggest that reduced Kir2.1 current contributes to the development of DAD and ventricular arrhythmias in Andersen syndrome.
- Okayama University Japan
Andersen Syndrome, Adolescent, Mutation, Missense, Action Potentials, Ventricular Premature Complexes, Heart Conduction System, Electrocardiography, Ambulatory, Tachycardia, Ventricular, Humans, Female, Potassium Channels, Inwardly Rectifying, Electrophysiologic Techniques, Cardiac, Polymorphism, Single-Stranded Conformational
Andersen Syndrome, Adolescent, Mutation, Missense, Action Potentials, Ventricular Premature Complexes, Heart Conduction System, Electrocardiography, Ambulatory, Tachycardia, Ventricular, Humans, Female, Potassium Channels, Inwardly Rectifying, Electrophysiologic Techniques, Cardiac, Polymorphism, Single-Stranded Conformational
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