Jnani Jack, Gruber Dorota, Mtisi Tafadzwa, Saleh Moussa, Azari Bani M
Internal Medicine, North Shore University Hospital, Manhasset, USA.
Pediatrics and Cardiology, Zucker School of Medicine at Hofstra/Northwell, Manhasset, USA.
Cureus. 2024 Jul 19;16(7):e64883. doi: 10.7759/cureus.64883. eCollection 2024 Jul.
The Brugada pattern is associated with a genetic disorder characterized by ST-segment elevation in the right precordial leads on electrocardiogram (EKG) in the absence of structural heart disease. Patients with the Brugada pattern have an increased risk for ventricular tachyarrhythmia and sudden cardiac death. Loss-of-function mutations in the SCN5A gene which encodes the alpha subunit of the cardiac sodium channel have been associated with Brugada syndrome (BrS). We report a case of a patient who was found to have a spontaneous type 1 Brugada pattern on a routine EKG done prior to travel. He underwent electrophysiological testing (EPS) which provoked ventricular tachycardia and underwent implantable cardioverter defibrillator (ICD) placement. His family history revealed a history of sudden cardiac death, abnormal EKG, syncope, dilated cardiomyopathy, and BrS. Genetic testing revealed a variant of uncertain significance (VUS) in the SCN5A gene in the proband and six of his relatives. The SCN5A VUS in this clinical context and segregation with the disease in his family supports its reclassification to pathogenic.
Brugada波与一种遗传性疾病相关，其特征为在无结构性心脏病的情况下，心电图（EKG）右胸前导联出现ST段抬高。有Brugada波的患者发生室性快速心律失常和心源性猝死的风险增加。编码心脏钠通道α亚基的SCN5A基因功能丧失突变与Brugada综合征（BrS）有关。我们报告一例患者，其在旅行前的常规EKG检查中发现有自发性1型Brugada波。他接受了电生理检查（EPS），诱发了室性心动过速，并植入了植入式心脏复律除颤器（ICD）。他的家族史显示有心源性猝死、异常EKG、晕厥、扩张型心肌病和BrS病史。基因检测显示先证者及其六位亲属的SCN5A基因存在意义未明的变异（VUS）。在这种临床背景下的SCN5A VUS及其在家族中的疾病分离情况支持将其重新分类为致病性变异。
