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

Frontiers in Genetics

Tatyana Tulintseva¹  Tatiana Treshkur¹  Yulya Fomicheva¹  Valeria Mikhailova¹  Anna Kostareva²  Anastasia Zaytseva³ 

[1] Almazov National Medical Research Centre, St Petersburg, Russia;Department of Woman and Child Health, Karolinska Institute, Stockholm, Sweden;Sechenov Institute of Evolutionary Physiology and Biochemistry, Russian Academy of Sciences, St Petersburg, Russia;

关键词: ABCC9;    atrial hypertension;    case report;    KATP channels;    ventricular fibrillation (VF);   

DOI  :  10.3389/fgene.2022.718853

来源: DOAJ

【 摘 要 】

Genetic variants in the ABCC9 gene, encoding the SUR2 auxiliary subunit from KATP 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 KATP channel dysfunction in the cardiovascular system and underlines the complexity of the clinical presentation of ABCC9-related diseases.

【 授权许可】

Unknown