{Reference Type}: Journal Article
{Title}: Brugada syndrome in a patient with AKAP9 mutation: Case report and review of the literature.
{Author}: Zhou D;Cheng M;
{Journal}: J Electrocardiol
{Volume}: 86
{Issue}: 0
{Year}: 2024 Jul 25
{Factor}: 1.38
{DOI}: 10.1016/j.jelectrocard.2024.153763
{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.