Electrophysiologic characteristics of an Andersen syndrome patient with KCNJ2 mutation

Satoshi Nagase, Kengo Fukushima Kusano, Masashi Yoshida, Tohru Ohe

Research output: Contribution to journalArticle

11 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)512-515
Number of pages4
JournalHeart Rhythm
Volume4
Issue number4
DOIs
Publication statusPublished - Apr 2007

Fingerprint

Andersen Syndrome
Familial Periodic Paralysis
Mutation
Ventricular Premature Complexes
Missense Mutation
Ventricular Tachycardia
Epinephrine
Action Potentials
Heart Ventricles
Cardiac Arrhythmias

Keywords

  • Andersen syndrome
  • Delayed afterdepolarization
  • Electrophysiologic study
  • Premature ventricular contraction
  • U wave

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Electrophysiologic characteristics of an Andersen syndrome patient with KCNJ2 mutation. / Nagase, Satoshi; Kusano, Kengo Fukushima; Yoshida, Masashi; Ohe, Tohru.

In: Heart Rhythm, Vol. 4, No. 4, 04.2007, p. 512-515.

Research output: Contribution to journalArticle

Nagase, Satoshi ; Kusano, Kengo Fukushima ; Yoshida, Masashi ; Ohe, Tohru. / Electrophysiologic characteristics of an Andersen syndrome patient with KCNJ2 mutation. In: Heart Rhythm. 2007 ; Vol. 4, No. 4. pp. 512-515.
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