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Nagaoka, Iori; Shimizu, Wataru; Itoh, Hideki; Yamamoto, Satoshi; Sakaguchi, Tomoko; Oka, Yuko; Tsuji, Keiko; Ashihara, Takashi; Ito, Makoto; Yoshida, Hidetada; Ohno, Seiko; Makiyama, Takeru; Miyamoto, Yoshihiro; Noda, Takashi; Kamakura, Shiro; Akao, Masaharu; Horie, Minoru
Circulation Journal, 2008, Letnik: 72, Številka: 5Journal Article
Background In the LQT2 form of long QT syndrome (LQTS), mutation sites are reported to correlate with clinical phenotypes in Caucasians, but the relationship in Asian patients remains unknown. The present study was designed to determine whether the location of KCNH2 mutations would influence the arrhythmic risk in LQT2 patients. Methods and Results In 118 genetically-confirmed LQT2 patients (69 families, 62 KCNH2 mutations), the ECG parameters, Schwartz scores, and the incidence of cardiac events, defined as syncope, aborted cardiac arrest, and sudden cardiac death, were evaluated. To examine the effect of mutation sites, the participants were divided accordingly: pore (n=56) and non-pore (n=62) groups. The corrected QTend interval was significantly greater in the pore than in the non-pore group (QTc; 522±63 ms vs 490±49 ms, p=0.002). In this study, the clinical course of each of the probands did not differ according to the mutation sites, whereas non-probands carrying the pore site mutation experienced their first cardiac events at significantly younger age than those with the non-pore site mutation (log-rank, p=0.0005). Conclusions In a Japanese LQT2 cohort, family members with the pore site mutation were at higher arrhythmic risk than those with the non-pore site mutation. (Circ J 2008; 72: 694 - 699)
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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Vir: Osebne bibliografije
in: SICRIS
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