A case report of one vasovagal syncope patient with third-degree atrioventricular block caused by SCN5A gene mutation and literature review

Background Vasovagal syncope (VVS) is common in children and significantly affects their quality of life. To our knowledge, this the first case report of SCN5A gene mutation associated with VVS and third-degree atrioventricular block (atrioventricular block, AVB), which could help pediatricians aware that VVS is not always a benign condition and help to identify VVS children at the risk of sudden death. Case presentation A twelve-year-old male child was admitted to Beijing Children’s Hospital of Capital Medical University for chest tightness for 9 days and syncope in July 2018. The child was diagnosed as VVS with third-degree AVB after complete investagations. A heterozygous mutation in the exon coding region of the SCN5A gene, C. 5851G > T (coding region 5551 nucleotide changed from G to T), was detected in the peripheral blood of the child. Electrophysiological examination and modified vagal ganglion radiofrequency ablation were performed in the child. The ECG playback was normal on the second day after operation. Holter showed no abnormality and no chest tightness or syncope occurred after 3 months and 1 year follow-up. Conclusions Our case report firstly reported that SCN5A mutation contributed to the pathogenesis of VVS with third-degree AVB. Vagal ganglion modified ablation have obtained good therapeutic effect. Gene analysis was of great value to the accurate diagnosis and treatment of VVS children.