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

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

doi:10.1016/j.joa.2013.01.013

Journal of Arrhythmia (Oct 2013)

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

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

Affiliations

Qi Wang, BSc: Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu 520-2192, Japan
Seiko Ohno, MD, PhD: Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu 520-2192, Japan
Koichi Kato, MD: Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu 520-2192, Japan
Megumi Fukuyama, MD: Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu 520-2192, Japan
Takeru Makiyama, MD, PhD: Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan
Hiromi Kimura, MD, PhD: Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu 520-2192, Japan
Nobu Naiki, MD: Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu 520-2192, Japan
Mihoko Kawamura, MD: Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu 520-2192, Japan
Hideki Hayashi, MD, PhD: Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu 520-2192, Japan
Minoru Horie, MD, PhD: Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu 520-2192, Japan

DOI: https://doi.org/10.1016/j.joa.2013.01.013
Journal volume & issue: Vol. 29, no. 5
pp. 261 – 264

Abstract

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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.

Published in Journal of Arrhythmia

ISSN: 1880-4276 (Print); 1883-2148 (Online)
Publisher: Wiley
Country of publisher: Australia
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the circulatory (Cardiovascular) system
Website: https://onlinelibrary.wiley.com/journal/18832148

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Abstract

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