Abstract：
Brugada syndrome (BrS) is a rare autosomal dominant inherited channel disorder characterized by a specific electrocardiographic pattern of right precordial ST-segment elevation. Clinically, patients may experience polymorphic ventricular tachycardia and ventricular fibrillation, leading to recurrent syncope and sudden cardiac death (SCD) in the absence of structural cardiomyopathy. The A-kinase anchor protein 9 (AKAP9) gene, located on chromosome 7, encodes the AKAP9 protein, which plays a crucial role in regulating the phosphorylation of slowly activating delayed rectifier potassium channels (IKs). Here, we present a rare case of BrS associated with an insertion mutation in AKAP9, resulting in a frameshift mutation.
摘要：
Brugada综合征（BrS）是一种罕见的常染色体显性遗传通道疾病，其特征是右心前区ST段抬高的特定心电图模式。临床上,患者可能会出现多形性室性心动过速和室颤，在没有结构性心肌病的情况下导致复发性晕厥和心源性猝死（SCD）。A激酶锚定蛋白9(AKAP9)基因,位于7号染色体上，编码AKAP9蛋白，在调节缓慢激活的延迟整流钾通道（IKs）的磷酸化中起着至关重要的作用。这里,我们介绍了一例罕见的与AKAP9插入突变相关的BrS病例,导致移码突变.
