SCN5A mutation is associated with early and frequent recurrence of ventricular fibrillation in patients with brugada syndrome

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 KohnoKengo Fukushima Kusano, Keijiro Saku, Tohru Ohe, Hiroshi Ito

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Abstract

Background: 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. Methods and Results: 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). Conclusions: 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.

Original languageEnglish
Pages (from-to)2572-2578
Number of pages7
JournalCirculation Journal
Volume74
Issue number12
DOIs
Publication statusPublished - Dec 8 2010

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Keywords

  • Appropriate ICD shock
  • Brugada syndrome
  • Genotype-phenotype interaction
  • Implantable cardioverter defibrillator
  • SCN5A mutation

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Nishii, N., Ogawa, M., Morita, H., Nakamura, K., Banba, K., Miura, D., Kumagai, N., Matsunaga, A., Kawamura, H., Urakawa, S., Miyaji, K., Nagai, M., Satoh, K., Nakagawa, K., Tanaka, M., Hiramatsu, S., Tada, T., Murakami, M., Nagase, S., ... Ito, H. (2010). SCN5A mutation is associated with early and frequent recurrence of ventricular fibrillation in patients with brugada syndrome. Circulation Journal, 74(12), 2572-2578. https://doi.org/10.1253/circj.CJ-10-0445