Marketou Maria E, Zareas Ilias, Kanoupakis Emmanuel, Patrianakos Alexandros, Parthenakis Fragiskos
Cardiology Department, Heraklion University Hospital, PO Box 1352, Stavrakia, Heraklion, Crete 71110, Greece.
Cardiology Department, Agios Nikolaos General Hospital, Crete Greece.
Eur Heart J Case Rep. 2021 Jun 30;5(6):ytab225. doi: 10.1093/ehjcr/ytab225. eCollection 2021 Jun.
Brugada syndrome (BrS) is a genetically heterogeneous channelopathy that may lead to sudden death. We report a novel mutation of the ankyrin-B gene that is probably related to the occurrence of BrS in two brothers.
First, we present the case of a 27-year-old male who was admitted to the hospital with acute myocarditis. The patient showed left ventricular dysfunction and was given carvedilol. Six days later, while asymptomatic and afebrile, the patient exhibited an electrocardiogram (ECG) with repolarization 'saddleback' ST changes in V2. A procainamide provocative test was performed with a response for Type 1 Brugada ECG pattern. Genetic testing revealed a novel mutation, c.5418T>A (+/-) (p.His1806Gln), in the ankyrin-B gene encoding. His 34 years old brother had an ECG J point elevation in leads V1 and V2 of 1 mm not fulfilling diagnostic criteria for Brugada ECG pattern. He also experienced arrhythmia-related syncope. Flecainide provocation test changed ECG towards a Type 1 Brugada pattern. A subcutaneous implantable defibrillator (ICD) was implanted. Patient 1 remains asymptomatic while Patient 2 experienced an appropriate ICD shock during follow-up.
In this case series, two brothers with BrS exhibited the same mutation of the ankyrin-B gene. Ankyrin-B is associated with the stability of plasma membrane proteins in the voltage-gated ion channels. Our finding provides a foundation for further investigation of this mutation in relation to BrS. Moreover, the timing of its presentation raises concerns as to whether myocarditis or beta-blockers are associated with the presentation of BrS ECG.
Brugada综合征（BrS）是一种具有遗传异质性的通道病，可能导致猝死。我们报告了两兄弟中可能与BrS发生相关的锚蛋白B基因的一种新突变。
首先，我们介绍一名27岁男性因急性心肌炎入院的病例。该患者表现出左心室功能障碍，并接受了卡维地洛治疗。六天后，患者无症状且无发热，但心电图显示V2导联有复极“马鞍形”ST段改变。进行了普鲁卡因胺激发试验，结果显示为1型Brugada心电图模式。基因检测发现编码的锚蛋白B基因中有一个新突变，c.5418T>A（+/-）（p.His1806Gln）。他34岁的哥哥在V1和V2导联的心电图J点抬高1mm，不符合Brugada心电图模式的诊断标准。他也经历过与心律失常相关的晕厥。氟卡尼激发试验使心电图转变为1型Brugada模式。植入了皮下植入式除颤器（ICD）。患者1仍无症状，而患者2在随访期间经历了一次适当的ICD电击。
在这个病例系列中，两名患有BrS的兄弟表现出相同的锚蛋白B基因突变。锚蛋白B与电压门控离子通道中质膜蛋白的稳定性有关。我们的发现为进一步研究这种与BrS相关的突变奠定了基础。此外，其出现的时间引发了关于心肌炎或β受体阻滞剂是否与BrS心电图表现相关的担忧。
