Journal Club: ABCC9 Associated Symptomatic Advanced Atrioventricular Block- A Case Report - Video
Overview
Cardiac complications pose a major trouble to global health. Sudden cardiac arrest and its consequence sudden cardiac death are the common causes for death. Although Coronary Artery Disease represents the most common cause of sudden cardiac death, arrhythmias are an important cause of the same as these patients present with fewer premonitory symptoms and often go undetected.
Inherited arrhythmia syndromes represent a challenge due to limited availability of widespread genetic testing and known pathogenic genetic mutations. The researchers in current study describe One such gene which is the ABCC9 gene, which encodes the SUR2 subunit of the ATP sensitive potassium channel or KATP channel. The study is seen in the Indian Journal of Cardiovascular disease in women published by Scientific Scholar.
Mutations in KATP channel are associated with wide range of inherited diseases. The authors report a patient with a likely pathogenic mutation in the ABCC9 gene, identified by whole exome sequencing. This case highlights the consequences of KATP channel dysfunction in the cardiovascular system.
A case of a heterozygous mutation in ABCC9 gene in a case presenting with advanced AV block without any evidence of structural heart disease. The study further adds an understanding to the knowledge of disorders associated with mutation in ABCC9 gene and sheds light on the consequences of KATP dysfunction. It adds to the phenotypic presentation of ABCC9 mutation associated diseases and also underscores the importance of KATP channels in cardiomyocyte electrophysiology, function, and their arrhythmogenic potential.
Reference:
Maddury J, Sharma A, Imran S. ABCC9 associated symptomatic advanced atrioventricular block in a patient with significant family history of sudden cardiac death: A case report. Indian J Cardiovasc Dis Women 2022;7:210-3.
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