Brugada syndrome in a patient with AKAP9 mutation: Case report and review of the literature.

Dongli Zhou, Min Cheng

Journal: Journal of electrocardiology 2024;86():153763

PMID: 39079367

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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.

Address: Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, PR China; Hubei Key Laboratory of Biological Targeted Therapy, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, PR China; Hubei Provincial Engineering Research Center of Immunological Diagnosis and Therapy for Cardiovascular Diseases, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, PR China.; Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, PR China; Hubei Key Laboratory of Biological Targeted Therapy, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, PR China; Hubei Provincial Engineering Research Center of Immunological Diagnosis and Therapy for Cardiovascular Diseases, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, PR China. Electronic address: [email protected].

DOI: 10.1016/j.jelectrocard.2024.153763

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MeSH Terms: Adult, Humans, Male, A Kinase Anchor Proteins, Brugada Syndrome, Cytoskeletal Proteins, Electrocardiography, Frameshift Mutation