Genetic screening of KCNJ8 in Japanese patients with J-wave syndromes or idiopathic ventricular fibrillation

• Main Authors: Qi Wang, BSc, Seiko Ohno, MD, PhD, Koichi Kato, MD, Megumi Fukuyama, MD, Takeru Makiyama, MD, PhD, Hiromi Kimura, MD, PhD, Nobu Naiki, MD, Mihoko Kawamura, MD, Hideki Hayashi, MD, PhD, Minoru Horie, MD, PhD
• Format: Article
• Language: English
• Published: Wiley 2013-10-01
• Series: Journal of Arrhythmia
• Subjects: J-wave syndrome; KCNJ8; Idiopathic ventricular fibrillation; Japanese
• Online Access: http://www.sciencedirect.com/science/article/pii/S1880427613000380
• ISSN: 1880-4276

Background: J-point elevation has been demonstrated to be associated with ventricular fibrillation (VF) and has been proposed as a cause of the J-wave syndrome (JWS). A mutation of KCNJ8, S422L, was reported as a culprit gene. This study aimed to determine the prevalence of KCNJ8 mutations in a Japanese population with JWS or idiopathic VF (IVF). Methods: A total of 230 probands with JWS and IVF underwent genetic screening of KCNJ8. To analyze and compare clinical and electrocardiographic characteristics, the probands were divided into 4 groups: Brugada (Br) pattern only, early repolarization (ER) pattern only, Br and ER patterns, and true IVF. Results: The results of the genetic analysis revealed no S422L or other KCNJ8 mutations and indicated no significant difference between the groups. Conclusion: The KCNJ8 mutation showed no association with JWS or IVF among our Japanese patients.