Treatment on arrhythmia electric storm in a Jervell and Lange-Nielsen syndrome patient by ablation of the triggering premature ventricular contraction: a case report

Jervell and Lange-Nielsen syndrome (JLNS) is a subtype of congenital long QT syndrome (LQTS), which is a potentially life-threatening ion channelopathy characterized by delayed myocardial repolarization that leads to QT prolongation. Since JLNS is a rare disease, there have been few in-depth studies on this disease since yet. Previous studies have found that the pathogenesis of JLNS is related to KCNQ1 or KCNE1 gene mutation. There are a relatively small number of studies reporting the successful ablation treatment on JLNS patient due to the extremely low incidence rate. We report a 51-year-old female patient diagnosed with JLNS through gene detection. The patient has A to G missense mutation in KCNE1 gene, and a subunit with abnormal structure, which is the basis for congenital deafness. The main clinical manifestation of this patient is frequent fatal ventricular arrhythmia triggered by premature ventricular contraction (PVC). Ablation was successfully performed to eliminate the triggering PVC. The patient was not able to have implantable cardioverter defibrillator (ICD) implantation due to economic reasons. During the 12-month follow-up, no syncope or fatal arrhythmia was found in this patient. Our case showed that radiofrequency catheter ablation (RFCA) was an effective way to treat fatal arrhythmia in JLNS patient.