Case Report: Loss-of-Function ABCC9 Genetic Variant Associated With Ventricular Fibrillation

Genetic variants in the ABCC9 gene, encoding the SUR2 auxiliary subunit from K-ATP channels, were previously linked with various inherited diseases. This wide range of congenital disorders includes multisystem and cardiovascular pathologies. The gain-of-function mutations result in Cantu syndrome, acromegaloid facial appearance, hypertrichosis, and acromegaloid facial features. The loss-of-function mutations in the ABCC9 gene were associated with the Brugada syndrome, early repolarization syndrome, and dilated cardiomyopathy. Here, we reported a patient with a loss-of-function variant in the ABCC9 gene, identified by target high-throughput sequencing. The female proband presented with several episodes of ventricular fibrillation and hypokalemia upon emotional stress. This case sheds light on the consequences of K-ATP channel dysfunction in the cardiovascular system and underlines the complexity of the clinical presentation of ABCC9-related diseases.