Key result
Homozygous KCNQ1 mutation confirms Jervell and Lange-Nielsen syndrome in two sisters with syncope and hearing loss.
Why the study?
Jervell and Lange-Nielsen syndrome is a rare inherited disorder predisposing to malignant arrhythmias, and awareness in adulthood is essential to ensure diagnosis, treatment, and prevention of sudden cardiac death.
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.
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Kocaekiz et al. (2026) 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.
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