%0 Journal Article
%T Brugada syndrome in a patient with AKAP9 mutation: Case report and review of the literature.
%A Zhou D
%A Cheng M
%J J Electrocardiol
%V 86
%N 0
%D 2024 Jul 25
%M 39079367
%F 1.38
%R 10.1016/j.jelectrocard.2024.153763
%X 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.