ICD implant in 6-year-old with Jervell and Lange-Nielsen (JLN) syndrome

Abstract

Jervell and Lange-Nielsen syndrome (JLNS), a rare autosomal recessive subtype of long QT syndrome (LQTS) caused by potassium channel gene mutations, is characterized by congenital bilateral sensorineural hearing loss and prolonged QT interval, predisposing patients to life-threatening cardiac arrhythmias. A 6-year-old girl with congenital bilateral sensorineural hearing loss (right cochlear implant at age 3 years) experienced six emotion- and exercise-triggered syncope episodes since the age of 3 years. Her electrocardiogram (ECG) revealed a corrected QT interval (QTc) of 600 ms and T-wave alternans, indicative of JLNS, which was confirmed by genetic testing. Despite beta-blocker treatment, her symptoms persisted, necessitating the successful placement of a subpectoral transvenous implantable cardioverter-defibrillator (ICD) to prevent sudden cardiac death, despite the challenges posed by her thin chest wall and age. ICD pacing has been employed to reduce QTc, and left cardiac sympathetic denervation is planned if the symptoms recur.