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.
Nagase
Satoshi
S
Department of Cardiovascular Medicine, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama, Japan. snagase@cc.okayama-u.ac.jp <snagase@cc.okayama-u.ac.jp>
Kusano
Kengo Fukushima
KF
Yoshida
Masashi
M
Ohe
Tohru
T
D000200:Action Potentials; D000293:Adolescent; D050030:Andersen Syndrome / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D015716:Electrocardiography, Ambulatory; D022062:Electrophysiologic Techniques, Cardiac; D005260:Female; D006329:Heart Conduction System / Q000503:physiopathology*; D006801:Humans; D020125:Mutation, Missense; D018807:Polymorphism, Single-Stranded Conformational; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D017180:Tachycardia, Ventricular / Q000209:etiology / Q000503:physiopathology; D018879:Ventricular Premature Complexes / Q000209:etiology / Q000503:physiopathology
C489457:KCNJ2 protein, human; D024661:Potassium Channels, Inwardly Rectifying