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 Kohno & 4 others Kengo Fukushima Kusano, Keijiro Saku, Tohru Ohe, Hiroshi Itoh

Research output: Contribution to journalArticle

25 Citations (Scopus)

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 - 2010

Fingerprint

Brugada Syndrome
Ventricular Fibrillation
Recurrence
Mutation
Shock
Implantable Defibrillators
Survival Rate
Secondary Prevention
Electrocardiography
Genotype
Phenotype

Keywords

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

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

SCN5A mutation is associated with early and frequent recurrence of ventricular fibrillation in patients with brugada syndrome. / Nishii, Nobuhiro; Ogawa, Masahiro; Morita, Hiroshi; Nakamura, Kazufumi; Banba, Kimikazu; Miura, Daiji; Kumagai, Naoko; Matsunaga, Akira; Kawamura, Hiroshi; Urakawa, Shigemi; Miyaji, Kohei; Nagai, Masahiro; Satoh, Katsumasa; Nakagawa, Koji; Tanaka, Masamichi; Hiramatsu, Shigeki; Tada, Takeshi; Murakami, Masato; Nagase, Satoshi; Kohno, Kunihisa; Kusano, Kengo Fukushima; Saku, Keijiro; Ohe, Tohru; Itoh, Hiroshi.

In: Circulation Journal, Vol. 74, No. 12, 2010, p. 2572-2578.

Research output: Contribution to journalArticle

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, Kohno, K, Kusano, KF, Saku, K, Ohe, T & Itoh, H 2010, 'SCN5A mutation is associated with early and frequent recurrence of ventricular fibrillation in patients with brugada syndrome', Circulation Journal, vol. 74, no. 12, pp. 2572-2578. https://doi.org/10.1253/circj.CJ-10-0445
Nishii, Nobuhiro ; Ogawa, Masahiro ; Morita, Hiroshi ; Nakamura, Kazufumi ; Banba, Kimikazu ; Miura, Daiji ; Kumagai, Naoko ; Matsunaga, Akira ; Kawamura, Hiroshi ; Urakawa, Shigemi ; Miyaji, Kohei ; Nagai, Masahiro ; Satoh, Katsumasa ; Nakagawa, Koji ; Tanaka, Masamichi ; Hiramatsu, Shigeki ; Tada, Takeshi ; Murakami, Masato ; Nagase, Satoshi ; Kohno, Kunihisa ; Kusano, Kengo Fukushima ; Saku, Keijiro ; Ohe, Tohru ; Itoh, Hiroshi. / SCN5A mutation is associated with early and frequent recurrence of ventricular fibrillation in patients with brugada syndrome. In: Circulation Journal. 2010 ; Vol. 74, No. 12. pp. 2572-2578.
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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.",
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T1 - SCN5A mutation is associated with early and frequent recurrence of ventricular fibrillation in patients with brugada syndrome

AU - Nishii, Nobuhiro

AU - Ogawa, Masahiro

AU - Morita, Hiroshi

AU - Nakamura, Kazufumi

AU - Banba, Kimikazu

AU - Miura, Daiji

AU - Kumagai, Naoko

AU - Matsunaga, Akira

AU - Kawamura, Hiroshi

AU - Urakawa, Shigemi

AU - Miyaji, Kohei

AU - Nagai, Masahiro

AU - Satoh, Katsumasa

AU - Nakagawa, Koji

AU - Tanaka, Masamichi

AU - Hiramatsu, Shigeki

AU - Tada, Takeshi

AU - Murakami, Masato

AU - Nagase, Satoshi

AU - Kohno, Kunihisa

AU - Kusano, Kengo Fukushima

AU - Saku, Keijiro

AU - Ohe, Tohru

AU - Itoh, Hiroshi

PY - 2010

Y1 - 2010

N2 - 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.

AB - 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.

KW - Appropriate ICD shock

KW - Brugada syndrome

KW - Genotype-phenotype interaction

KW - Implantable cardioverter defibrillator

KW - SCN5A mutation

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