Clinical analysis of a family of inappropriate sinus tachycardia with gene variation of SCN10A

Abstract

Objective To investigate the association between sinus tachycardia and SCN10A gene. Methods A case of patient with inappropriate sinus tachycardia and SCN10A gene mutation was analyzed. Using the keywords of “sinus tachycardia”and“SCN10A”, relavant literatures were searched from PubMed, GeenMedical, CNKI, WangFang and Vip databases. Literatures of SCN10A-related heart disease were collected and analyzed. Results A 12-year-old boy was admitted to the hospital with “dizziness, weakness of limbs with pale after strenuous exercise for 5 years, and increased heart rate for 2 years”. The father, father’s sister and the boy’s sister had a medical history of “sinus tachycardia” in the family. The electrocardiogram showed sinus tachycardia （heart rate 120-130 bpm）. Whole exon sequencing revealed that the patient carried SCN10A and CACNA1S gene mutation. His sister had the same gene mutation. Five literatures of SCN10A-related heart diseases were collected, and the results showed that SCN10A gene was closely related to cardiac conduction system function and various arrhythmias, including atrial fibrillation, Brugada syndrome, heart failure and myocardial hypertrophy, etc. Conclusion In this study, it is believed that SCN10A gene mutation is closely related to inappropriate sinus tachycardia, which may provide new ideas and new directions for the treatment of inappropriate sinus tachycardia, further studies are needed to verify it.

Keywords

• |inappropriate sinus tachycardia|scn10a|gene mutation