Pregnant woman with Jervell and Lange-Nielsen syndrome: a case report

Abstract

Jervell and Lange-Nielsen syndrome (JLNS) is a rare autosomal recessive disorder characterised by congenital sensorineural hearing loss and prolonged QT interval, predisposing to ventricular arrhythmia and sudden cardiac death. We report a 32-year-old woman with congenital deafness and recurrent syncope since childhood, diagnosed with JLNS due to a homozygous KCNQ1 exon 14 (c.1716-1719del) variant. She had an implantable cardioverter-defibrillator and was maintained on propranolol. During pregnancy, she developed fetal growth restriction and delivered a healthy neonate vaginally under continuous cardiac monitoring. Both mother and baby recovered uneventfully. This case emphasises the importance of genetic confirmation, multidisciplinary care, and vigilant peripartum monitoring in optimising outcomes for pregnancies complicated by JLNS.