Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Brussels, Belgium.
Centre for Medical Genetics, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, Brussels, Belgium, European Reference Networks Guard-Heart, Brussels, Belgium.
Heart Rhythm. 2022 Jun;19(6):945-951. doi: 10.1016/j.hrthm.2022.01.034. Epub 2022 Feb 4.
Brugada syndrome (BrS) is caused by mutations in SCN5A gene in 15%-20% of cases. Previous studies showed worse prognosis in SCN5A mutation carriers (SCN5A+). To date, there are no data on genotype-phenotype correlation with electrocardiographic (ECG) imaging (ECGI) and high-density epicardial electroanatomic map.
This study aimed to correlate SCN5A mutation with substrate severity in BrS assessed by ECGI and high-density electroanatomic map.
All consecutive BrS patients undergoing ECGI and high-density epicardial electroanatomic map with HD Grid Mapping Catheter were retrospectively analyzed. On ECGI, the following parameters were analyzed before and after ajmaline administration: right ventricular outflow tract (RVOT) activation time (RVOT-AT) and RVOT recovery time (RVOT-RT). On electroanatomic map, the parameters analyzed before and after ajmaline were high-frequency potential activation time (HFPat), high-frequency potential duration (HFPd), high-frequency potential amplitude (HFPa), low-frequency potential activation time (LFPat), low-frequency potential duration (LFPd), and low-frequency potential amplitude (LFPa).
Thirty-nine BrS patients with ECGI were included. Eight patients (20.5%) were SCN5A+. At baseline ECGI map, mean RVOT-RT was longer in SCN5A+ (P = .024). After ajmaline administration, SCN5A+ patients showed longer RVOT-AT (125.6 vs 100.8 ms; P = .045) and longer RVOT-RT (426.4 vs 397 ms; P = .033). After ajmaline administration, SCN5A+ showed longer HFPat (164.1 vs 119.5 ms; P = .041); longer LFPat (272.7 vs 200.5 ms; P = .018); and longer LFPd (211.9 vs 151.2 ms; P = .033).
In BrS, SCN5A+ patients compared with SCN5A- patients exhibit marked depolarization and repolarization abnormalities as assessed by ECGI and epicardial high-density electroanatomic map.
Brugada 综合征（BrS）在 15%-20%的病例中由 SCN5A 基因突变引起。先前的研究表明，SCN5A 基因突变携带者（SCN5A+）的预后更差。迄今为止，尚无关于心电图（ECG）成像（ECGI）和高密度心外膜电解剖图与基因型-表型相关性的相关数据。
本研究旨在通过 ECGI 和高密度心外膜电解剖图，分析 SCN5A 基因突变与 BrS 患者的心脏结构严重程度之间的相关性。
回顾性分析所有连续接受 ECGI 和高密度心外膜电解剖图检查（使用 HD Grid Mapping 导管）的 BrS 患者。在 ECGI 上，分析阿马林给药前后的以下参数：右心室流出道（RVOT）激活时间（RVOT-AT）和 RVOT 恢复时间（RVOT-RT）。在心外膜电解剖图上，分析阿马林给药前后的参数包括高频电位激活时间（HFPat）、高频电位持续时间（HFPd）、高频电位幅度（HFPa）、低频电位激活时间（LFPat）、低频电位持续时间（LFPd）和低频电位幅度（LFPa）。
纳入了 39 例接受 ECGI 的 BrS 患者。其中 8 例（20.5%）为 SCN5A+。在基线 ECGI 图上，SCN5A+患者的平均 RVOT-RT 较长（P =.024）。阿马林给药后，SCN5A+患者的 RVOT-AT 更长（125.6 比 100.8 毫秒；P =.045），RVOT-RT 更长（426.4 比 397 毫秒；P =.033）。阿马林给药后，SCN5A+患者的 HFPat 更长（164.1 比 119.5 毫秒；P =.041）；LFPat 更长（272.7 比 200.5 毫秒；P =.018）；LFPd 更长（211.9 比 151.2 毫秒；P =.033）。
在 BrS 中，与 SCN5A-患者相比，SCN5A+患者的心电图和心外膜高密度电解剖图评估的去极化和复极异常更为明显。
