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.
Keyphrases
- rare case
- case report
- end stage renal disease
- heart failure
- ejection fraction
- left ventricular
- chronic kidney disease
- copy number
- newly diagnosed
- pulmonary embolism
- prognostic factors
- protein kinase
- binding protein
- amino acid
- peritoneal dialysis
- gene expression
- left atrial
- transcription factor
- patient reported outcomes
- patient reported
- mitral valve