Key result
Young Brugada syndrome patients with a ventricular septal defect were diagnosed significantly earlier and all carried loss-of-function SCN5A variants compared to 32.3% of those without VSD.
Why the study?
Among Japanese patients diagnosed with Brugada syndrome at <20 years of age, 5 of 36 had concomitant ventricular septal defect, prompting investigation into their clinical features and genetic background.
Does the presence of a ventricular septal defect correlate with specific genetic variants and clinical presentation in young patients with Brugada syndrome?
Cohort (n=36)
Yes
Does the presence of a ventricular septal defect correlate with specific genetic variants and clinical presentation in young patients with Brugada syndrome?
Young patients with Brugada syndrome and a concurrent ventricular septal defect have a very high prevalence of loss-of-function SCN5A variants and present at an earlier age, suggesting VSD-related hemodynamic stress may accelerate the disease phenotype.
Answers are grounded in this paper and cite their sources.
May prompt earlier VSD evaluation in young Brugada patients; hypothesis-generating for SCN5A role.
心室中隔欠損（VSD）は小児において頻度の高い先天性心疾患である．一方Brugada症候群（BrS）は心室細動や突然死を引き起こす遺伝性疾患で，中年に多く小児では稀である．日本人不整脈コホートでは20歳未満でBrSと診断された患者は36人おり，うち5人（14%）がVSDを合併していたため，われわれは彼らの臨床像や遺伝的背景を検討した．VSD合併BrS患者は，VSDのない群と比較すると早期にBrSと診断されていた（4.0±4.6 yrs vs 11.5±5.1 yrs，p＝0.004）．BrS患者36人中15人にSCN5A変異を同定したが，VSDを合併した5人は全員がSCN5A変異を有しており（R367S，R533＊，R893C，W1345C，G1743R），すべて機能喪失型変異であった．VSD患者で右側胸部誘導のST上昇が認められる場合には，BrSを疑い遺伝子検査を含む適切なスクリーニング検査を行う必要がある．
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Suzuki et al. (2023) conducted a cohort in Brugada Syndrome (n=36). Ventricular Septal Defect (VSD) vs. Brugada syndrome without VSD was evaluated on Presence of SCN5A variants (p=0.008). Young Brugada syndrome patients with a ventricular septal defect were diagnosed significantly earlier and all carried loss-of-function SCN5A variants compared to 32.3% of those without VSD.
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