Tetsuhisa Hattori, Takeru Makiyama, Masaharu Akao, Eiji Ehara, Seiko Ohno, Moritake Iguchi, Yukiko Nishio, Kenichi Sasaki, Hideki Itoh, Masayuki Yokode, Toru Kita, Minoru Horie, Takeshi Kimura
AIMS: Short-QT syndrome (SQTS) is a recently recognized disorder associated with atrial fibrillation (AF) and sudden death due to ventricular arrhythmias. Mutations in several ion channel genes have been linked to SQTS; however, the mechanism remains unclear. This study describes a novel heterozygous gain-of-function mutation in the inward rectifier potassium channel gene, KCNJ2, identified in SQTS. METHODS AND RESULTS: We studied an 8-year-old girl with a markedly short-QT interval (QT = 172 ms, QTc = 194 ms) who suffered from paroxysmal AF...
March 15, 2012: Cardiovascular Research