Abstract / Summary
Abstract Introduction: Jervell and Lange-Nielsen syndrome (JLNS) is a rare autosomal recessive channelopathy caused by biallelic loss-of-function variants in KCNQ1 (or, less commonly, KCNE1), producing profound congenital sensorineural deafness together with a markedly prolonged QT interval and a very high risk of torsades de pointes and sudden cardiac death from early childhood. Beta-blockade is first-line therapy, but a large proportion of patients remain symptomatic, and left cardiac sympathetic denervation (LCSD) is recommended as an adjunct in high-risk or breakthrough disease. Case presentation: We describe a 4-year-1-month-old girl from rural Punjab, Pakistan, with genetically confirmed KCNQ1-related JLNS, who presented with recurrent seizure-like episodes from one year of age, profound bilateral sensorineural deafness with absent expressive speech, divergent squint, and a family history of a sibling who died at 5.5 months of age during an uncontrolled seizure/collapse. Despite oral propranolol and antiepileptic therapy, she remained at high arrhythmic risk on multidisciplinary review and underwent elective video-assisted thoracoscopic (VATS) left cardiac sympathetic denervation. Clinical discussion: Baseline transthoracic echocardiography confirmed a structurally normal heart with preserved biventricular function, in keeping with a pure electrical (channelopathy) substrate. A dedicated perioperative pathway was used: tight target ranges for serum potassium (4.0–5.5 mmol/L) and magnesium (2.0–2.25 mg/dL), continuous ECG telemetry with defibrillator pads applied throughout the admission, bedside emergency antiarrhythmic drugs, and confirmed availability of paediatric thoracoscopic instrumentation and back-up temporary pacing/defibrillation. Surgery — resection of the lower third of the left stellate ganglion together with the upper thoracic sympathetic chain — was completed via a three-port VATS approach without intraoperative complication, inotropic support, or need for conversion. Conclusion This case illustrates that VATS-LCSD can be performed safely in a small child (13 kg) with high-risk JLNS when supported by careful multidisciplinary perioperative planning, and reinforces the importance of genetic counselling and cascade screening in families with unexplained infant deaths.