genetic screening of kcnj8 in japanese patients with j-wave syndromes or idiopathic ventricular fibrillation
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2013
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Abstract
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.
| Reference Key |
bsc2013journalgenetic
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| 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 |
| Journal | [rinsho ketsueki] the japanese journal of clinical hematology |
| Year | 2013 |
| DOI |
10.1016/j.joa.2013.01.013
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