Abu Dogoshh Ala, Konstantino Yuval, Haim Moti
Department of Cardiology, Soroka University Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, PO Box 141, Beer-Sheva 84101, Israel For the podcast associated with this article, please visit https://academic.oup.com/ehjcr/pages/podcast.
Eur Heart J Case Rep. 2021 Mar 22;5(3):ytab053. doi: 10.1093/ehjcr/ytab053. eCollection 2021 Mar.
Brugada syndrome (BrS) is an inherited disorder associated with increased risk of ventricular arrhythmias and sudden cardiac death. The most common genetic alteration is a loss of function mutation of SCN5A gene. Several mutations in SCN5A gene were found to be associated with an overlap phenotype of both BrS and long QT3 (LQT3) syndrome.
We report of a 29-year-old man with familial LQT3 syndrome that was diagnosed at age 6 during evaluation of syncope. He has been treated for several years with Flecainide. Now presented with recurrent episodes of syncope. Electrocardiogram (ECG) upon admission was notable for Brugada type 1 pattern that was attenuated after Flecainide was discontinued. Genetic analysis revealed SCN5A 1790D>G mutation that is associated with overlap of LQT3 and BrS. Due to recurrent syncope and difficult management of both LQT3 and BrS, an implantable cardioverter-defibrillator was implanted together with beta-blockers treatment. The patient was discharged home with no evidence of Brugada type 1 pattern on his ECG. He had no further syncope or arrhythmias during 6 months of follow-up.
There are few reports describing the phenotypic overlap between LQT3 and BrS. Despite the confirmed genetic link between both syndromes, their management strategy is controversial. In particularly, the treatment with sodium channel blockers for LQT3 syndrome may increase the risk for arrhythmias in patients with coexisting BrS. The present case demonstrates the link between LQT3 and BrS and the difficult dilemma in the management of these patients.
布加综合征（BrS）是一种遗传性疾病，与室性心律失常和心源性猝死风险增加相关。最常见的基因改变是SCN5A基因功能丧失突变。已发现SCN5A基因的几种突变与BrS和长QT3（LQT3）综合征的重叠表型相关。
我们报告了一名29岁患有家族性LQT3综合征的男性，他在6岁评估晕厥时被诊断出该病。他接受氟卡尼治疗数年。现出现反复晕厥发作。入院时心电图（ECG）显示为1型布加图形，停用氟卡尼后该图形减弱。基因分析显示SCN5A基因1790D>G突变，该突变与LQT3和BrS的重叠相关。由于反复晕厥以及LQT3和BrS难以管理，植入了植入式心脏复律除颤器并联合β受体阻滞剂治疗。患者出院时心电图无1型布加图形迹象。在6个月的随访期间，他未再出现晕厥或心律失常。
很少有报告描述LQT3和BrS之间的表型重叠。尽管两种综合征之间已证实存在基因联系，但其管理策略仍存在争议。特别是，LQT3综合征使用钠通道阻滞剂治疗可能会增加合并BrS患者的心律失常风险。本病例证明了LQT3和BrS之间的联系以及这些患者管理中的困境。
