Two adult sisters with recurrent syncope and congenital profound sensorineural hearing loss were diagnosed with Jervell and Lange-Nielsen syndrome confirmed by a homozygous KCNQ1 mutation.
Case Report (n=2)
No
Jervell and Lange-Nielsen syndrome can be diagnosed late in adulthood, highlighting the need for clinical awareness to prevent sudden cardiac death.
Jervell and Lange-Nielsen syndrome is a rare inherited disorder characterised by sensorineural hearing loss and a prolonged corrected QT interval, predisposing to malignant arrhythmias. We describe two adult sisters diagnosed after recurrent syncope. Genetic testing confirmed a homozygous KCNQ1 mutation. Awareness of this condition, even in adulthood, is essential to ensure diagnosis, appropriate treatment, and prevention of sudden cardiac death.
Kocaekiz et al. (Mon,) conducted a case report in Jervell and Lange-Nielsen syndrome (n=2). Propranolol and implantable cardioverter defibrillator was evaluated. Two adult sisters with recurrent syncope and congenital profound sensorineural hearing loss were diagnosed with Jervell and Lange-Nielsen syndrome confirmed by a homozygous KCNQ1 mutation.