SCN5A基因突变相关Brugada综合征行S-ICD治疗1例并文献复习

SCN5A Mutation-Related Brugada Syndrome Treated with S-ICD: A Case Report and Literature Review

摘要: Brugada综合征(Brugada syndrome, BrS)是一种常染色体显性遗传的离子通道病，其临床表现多样，以心电图右胸导联特征性ST段抬高和恶性室性心律失常高发风险为特点，在临床中易被漏诊或误诊。现报道1例SCN5A基因突变相关的BrS罕见病例，患者为35岁男性，因发作性心慌1年、加重2个月入院，心电图显示V1、V2导联穹隆型ST段抬高伴T波倒置，符合BrS I型心电图改变。患者祖父39岁猝死，父亲确诊BrS并已植入ICD。基因检测证实患者携带SCN5A c.1066G>A p. (Asp356Asn)杂合致病突变，其女儿未携带该突变。患者成功接受全皮下植入型心律转复除颤器(S-ICD)治疗，术后恢复良好。本例体现了BrS的家族聚集性、遗传异质性及不完全外显特点。

Abstract: Brugada syndrome (BrS) is an autosomal dominant inherited channelopathy characterized by diverse clinical manifestations, distinctive ST-segment elevation in the right precordial leads on electrocardiogram, and a high risk of malignant ventricular arrhythmias. It is prone to missed diagnosis or misdiagnosis in clinical practice. This article reports a rare case of BrS associated with SCN5A gene mutation. A 35-year-old male patient was admitted due to paroxyspal palpitations for one year, worsening over the past two months. Electrocardiography revealed coved-type ST-segment elevation in leads V1 and V2 accompanied by T-wave inversion, consistent with type I BrS electrocardiographic pattern. The patient’s grandfather died suddenly at age 39, and his father was diagnosed with BrS and underwent ICD implantation. Genetic testing confirmed that the patient carried the heterozygous pathogenic SCN5A c.1066G>A p. (Asp356Asn) mutation, which was absent in his daughter. The patient successfully underwent subcutaneous implantable cardioverter-defibrillator (S-ICD) implantation and recovered well postoperatively. This case demonstrates the familial aggregation, genetic heterogeneity, and incomplete penetrance characteristics of BrS.