Besli Gülser Esen, Yıldırım Sema, Akalın İbrahim, Ayhan Yusuf İzzet, Kısıoğlu Merve, Berdeli Afig
Departments of Pediatric Emergency, İstanbul Medeniyet University Goztepe Training and Research Hospital, İstanbul, Turkey.
Departments of Pediatrics, İstanbul Medeniyet University Goztepe Training and Research Hospital, İstanbul, Turkey.
Turk J Pediatr. 2018;60(5):571-575. doi: 10.24953/turkjped.2018.05.016.
Besli GE, Yıldırım S, Akalın İ, Ayhan Yİ, Kısıoğlu M, Berdeli A. Fever-induced Brugada syndrome in a 9-year-old boy presenting with acute chest pain. Turk J Pediatr 2018; 60: 571-575. Brugada syndrome, an arrhythmogenic disease, occurs due to mutations involving cardiac sodium channels. It is characterized by persistent or transient ST-segment elevation in the right precordial electrocardiogram leads that could be unmasked by several circumstances, with fever particularly. Molecular and cellular mechanisms leading to Brugada syndrome have not been completely elucidated. Mutations of the SCN5A gene encoding the pore-forming α-subunit of the cardiac sodium channel protein have been attributed in the molecular diagnosis. Although this syndrome is well-known in adults, it is less frequently reported in infants and children. We describe a 9-year-old Turkish boy with a family history of sudden cardiac death, who presented with chest pain and fever-induced expression of the Brugada syndrome phenotype that might be associated with a mutation in SCN5A gene.
贝斯利·GE、耶尔德勒姆·S、阿卡林·İ、艾汗·Yİ、基肖奥卢·M、贝德利·A。一名9岁急性胸痛男孩出现发热诱导的 Brugada 综合征。《土耳其儿科学杂志》2018年；60: 571 - 575。Brugada 综合征是一种致心律失常性疾病，由涉及心脏钠通道的突变引起。其特征是右胸前心电图导联出现持续性或短暂性 ST 段抬高，在多种情况下可被揭示出来，发热尤为明显。导致 Brugada 综合征的分子和细胞机制尚未完全阐明。编码心脏钠通道蛋白孔形成α亚基的 SCN5A 基因突变已被用于分子诊断。尽管该综合征在成人中广为人知，但在婴儿和儿童中报道较少。我们描述了一名有心脏性猝死家族史的9岁土耳其男孩，他出现胸痛，且发热诱导了 Brugada 综合征表型的表达，这可能与 SCN5A 基因突变有关。
