Department of Cardiology, Ege University School of Medicine, Izmir, Turkey.
Division of Gastroenterology, Ege University School of Medicine, Izmir, Turkey.
Am J Cardiol. 2021 Jul 15;151:51-56. doi: 10.1016/j.amjcard.2021.04.010. Epub 2021 May 24.
Irritable bowel syndrome (IBS) is one of the most widely recognized functional bowel disorders (FBDs) with a genetic component. SCN5A gene and SCN1B loci have been identified in population-based IBS cohorts and proposed to have a mechanistic role in the pathophysiology of IBS. These same genes have been associated with Brugada syndrome (BrS). The present study examines the hypothesis that these two inherited syndromes are linked. Prevalence of FBDs over a 12 months period were compared between probands with BrS/drug-induced type 1 Brugada pattern (DI-Type 1 BrP) (n = 148) and a control group (n = 124) matched for age, female sex, presence of arrhythmia and co-morbid conditions. SCN5A/SCN1B genes were screened in 88 patients. Prevalence of IBS was 25% in patients with BrS/DI-Type 1 BrP and 8.1% in the control group (p = 2.34 × 10). On stepwise logistic regression analysis, presence of current and/or history of migraine (OR of 2.75; 95% CI: 1.08 to 6.98; p = 0.033) was a predictor of underlying BrS/DI-Type 1 BrP among patients with FBDs. We identified 8 putative SCN5A/SCN1B variants in 7 (12.3%) patients with BrS/DI-Type 1 BrP and 1 (3.2%) patient in control group. Five out of 8 (62.5%) patients with SCN5A/SCN1B variants had FBDs. In conclusion, IBS is a common co-morbidity in patients with BrS/DI-Type 1 BrP. Presence of current and/or history of migraine are a predictor of underlying BrS/DI-Type 1 BrP among patients with FBDs. Frequent co-existence of IBS and BrS/DI-Type 1 BrP necessitates cautious use of certain drugs among the therapeutic options for IBS that are known to exacerbate the Brugada phenotype.
肠易激综合征(IBS)是最广泛认可的功能性肠病(FBD)之一,具有遗传成分。SCN5A 基因和 SCN1B 基因座已在基于人群的 IBS 队列中确定,并被提出在 IBS 的病理生理学中具有机制作用。这些相同的基因与 Brugada 综合征(BrS)有关。本研究检验了以下假设,即这两种遗传性综合征是相关的。在 BrS/药物诱导 1 型 Brugada 模式(DI-Type 1 BrP)(n=148)和年龄、性别、心律失常和合并症相匹配的对照组(n=124)中,比较 12 个月期间 FBD 的患病率。在 88 名患者中筛选 SCN5A/SCN1B 基因。BrS/DI-Type 1 BrP 患者的 IBS 患病率为 25%,对照组为 8.1%(p=2.34×10)。在逐步逻辑回归分析中,当前和/或既往偏头痛的存在(OR 为 2.75;95%CI:1.08 至 6.98;p=0.033)是 FBD 患者潜在 BrS/DI-Type 1 BrP 的预测因子。我们在 7 名 BrS/DI-Type 1 BrP 患者(12.3%)和 1 名对照组患者(3.2%)中发现了 8 种可能的 SCN5A/SCN1B 变体。在 8 种 SCN5A/SCN1B 变体中,有 5 种(62.5%)患者患有 FBD。结论:IBS 是 BrS/DI-Type 1 BrP 患者的常见合并症。当前和/或既往偏头痛的存在是 FBD 患者潜在 BrS/DI-Type 1 BrP 的预测因子。IBS 和 BrS/DI-Type 1 BrP 频繁共存,需要在治疗 IBS 的选择中谨慎使用某些已知会加重 Brugada 表型的药物。