A Novel Frameshift Mutation, KCNH2 [p.Asp896ArgfsX79], Leading to Malignant Ventricular Arrhythmia, Identified After Treatment of Gastrointestinal Bleeding

Abstract

A novel frameshift mutation in the KCNH2 gene for Long QT Syndrome Type 2 (LQTS2) was identified after Torsades de Pointes ventricular tachycardia (TdP VT) in a 49-year old patient managed with octreotide and nadolol for an acute variceal bleed. Inspite of removal of offending medications and correction of underlying electrolyte abnormalities, the patient's QT interval remained prolonged at 521 ms, raising the suspicion of an underlying channelopathy. Genetic studies confirmed heterozygosity for a novel frameshift mutation for KCNH2 gene, D896Rfs X79. We explore the pathogenicity and clinical impact of this variant mutation.