Electrophysiologic characteristics of an Andersen syndrome patient with KCNJ2 mutation

Heart Rhythm. 2007 Apr;4(4):512-5. doi: 10.1016/j.hrthm.2006.10.030. Epub 2006 Nov 10.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Action Potentials
  • Adolescent
  • Andersen Syndrome / complications
  • Andersen Syndrome / genetics*
  • Andersen Syndrome / physiopathology*
  • Electrocardiography, Ambulatory
  • Electrophysiologic Techniques, Cardiac
  • Female
  • Heart Conduction System / physiopathology*
  • Humans
  • Mutation, Missense*
  • Polymorphism, Single-Stranded Conformational
  • Potassium Channels, Inwardly Rectifying / genetics*
  • Tachycardia, Ventricular / etiology
  • Tachycardia, Ventricular / physiopathology
  • Ventricular Premature Complexes / etiology
  • Ventricular Premature Complexes / physiopathology

Substances

  • KCNJ2 protein, human
  • Potassium Channels, Inwardly Rectifying