Long QT Syndrome With KCNH2/SCN5A Dual Gene Mutation Leading to Electrical Storm.

ABSTRACT:

Background

Long QT syndrome (LQTS) is a genetic ion channel abnormality characterized by a long QT interval and torsades de pointes. Torsades de pointes can progress to ventricular fibrillation and sudden cardiac death, and stressful conditions such as infections can be an acquired trigger of malignant arrhythmias. LQTS due to compound genetic mutations are clinically rare, and its diagnosis and therapy are challenging and require a multidisciplinary comprehensive intervention.

Case summary

A 62-year-old man presented with malignant arrhythmia and shock, triple-vessel coronary artery disease, dual LQT mutations (KCNH2/LQT2 and SCN5A/LQT3), and Gram-negative sepsis. The arrhythmia was successfully controlled by means of emergency defibrillation, temporary pacing, anti-infecti

SUBMITTER: Ding Q 

PROVIDER: S-EPMC12859581 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature