Key result
SCN5A mutation linked to ~100% greater cardiac event risk in Brugada syndrome.
Why the study?
SCN5A mutations are identified in 15% to 20% of Brugada syndrome patients, but the impact of mutation presence on prognosis has not been fully clarified.
Does the presence of SCN5A mutation predict cardiac events in patients with Brugada syndrome?
Observational (n=415)
Yes
Does the presence of SCN5A mutation predict cardiac events in patients with Brugada syndrome?
The presence of an SCN5A mutation is a significant predictor of future cardiac events in patients with Brugada syndrome.
Answers are grounded in this paper and cite their sources.
SCN5A mutation was associated with higher event risk in Brugada syndrome; extends observational data on genetic stratification but should not yet change practice.
Brugada症候群（BrS）患者においてSCN5A変異は15～20％に同定されるが，変異の有無が予後に与える影響は十分に解明されていない．そこで当研究では，日本国内14の施設から集められたBrS発端者415例（男性403例，97％，平均年齢46±14歳）に対して，SCN5A変異の有無と臨床的特徴および心イベントとの関連を調べた．SCN5A変異陰性症例〔SCN5A（－）, n = 355〕と比較してSCN5A変異陽性症例〔SCN5A（+）, n = 60〕は初回失神年齢が若く（34歳 vs. 42 歳，p= 0.013），加算平均心電図で遅延電位（LP）陽性率が高く（89％ vs. 73％，p= 0.016），心電図上P波幅，PQ間隔，QRS幅の延長が見られた．平均72ヵ月の経過観察期間中に，心イベントはSCN5A（＋）群でより多く認められ（p= 0.017，log-rank），多変量解析でも心肺停止の既往とならびSCN5A変異を有することは，心イベントを予測する有意な因子であった（Hazard Ratio = 2.0, p= 0.045）．以上の結果から，SCN5A遺伝子変異はBrS患者の重要な心イベントの予測因子となることが示された．（心電図，2018；38：269〜276）
No takes yet. Share an insight, caveat, or question.
Yamagata et al. (2018) conducted an observational in Brugada syndrome (n=415). SCN5A mutation vs. No SCN5A mutation was evaluated on Cardiac events (HR 2.0, 95% CI 1.0-3.8, p=0.045). In patients with Brugada syndrome, the presence of an SCN5A mutation significantly increased the risk of cardiac events compared to those without the mutation (HR 2.0).
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: