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PubMed 21048329


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Title: SCN5A mutation is associated with early and frequent recurrence of ventricular fibrillation in patients with Brugada syndrome.

Authors: Nobuhiro Nishii, Masahiro Ogawa, Hiroshi Morita, Kazufumi Nakamura, Kimikazu Banba, Daiji Miura, Naoko Kumagai, Akira Matsunaga, Hiroshi Kawamura, Shigemi Urakawa, Kohei Miyaji, Masahiro Nagai, Katsumasa Satoh, Koji Nakagawa, Masamichi Tanaka, Shigeki Hiramatsu, Takeshi Tada, Masato Murakami, Satoshi Nagase, Kunihisa Kohno, Kengo Fukushima Kusano, Keijiro Saku, Tohru Ohe, Hiroshi Ito

Journal, date & volume: Circ. J., 2010 Nov 25 , 74, 2572-8

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/21048329


Abstract
Mutations in SCN5A are reportedly linked to Brugada syndrome (BS), but recent observations suggest that they are not necessarily associated with ventricular fibrillation (VF) in BS patients. Therefore, the clinical importance of SCN5A mutations in BS patients was examined in the present study. The 108 BS patients were examined for SCN5A mutations and various parameters were compared between patients with and without mutations. An implantable cardioverter defibrillator (ICD) was implanted in 49 patients and a predictor of appropriate ICD shock was investigated. The existence of a SCN5A mutation was not associated with initial VF episodes (21.7% vs 20.0%, P=0.373). In the secondary prevention group, appropriate shock-free survival rate was significantly lower in patients with spontaneous type 1 ECG than in those without (41.1% vs 85.7% at 2 years, P=0.014). The appropriate shock-free survival rate was also significantly lower in patients with SCN5A mutations than in those without (28.6% vs 83.3% at 1 year, P=0.040). Appropriate shock was more frequent in patients with SCN5A mutations than in those without (6.6±6.2 vs 1.7±3.0, P=0.007).SCN5A mutations are associated with early and frequent VF recurrence, but not with initial VF episodes. This is the first report on the genotype-phenotype interaction and clinical significance of this mutation.