CLINICAL CHARACTERISTICS: Jervell and Lange-Nielsen syndrome (JLNS) is characterized by bilateral sensorineural hearing loss (SNHL), vestibular dysfunction, and QTc prolongation on repeated testing. Iron deficiency anemia may be present in some people with KCNQ1 pathogenic variants. The hearing loss is most often congenital and severe to profound, although milder degrees of hearing loss have been described....
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Discussion
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Audiologists identifying a child with severe congenital sensorineural hearing loss should refer for cardiac evaluation to rule out JLNS, as the associated long QT syndrome carries a risk of sudden cardiac death if unmanaged; no change to audiological fitting practice itself, but the referral pathway is critical.
JLNS sits at the intersection of audiology and cardiology, and audiologists are often the first clinicians to encounter affected children, making awareness of the cardiac co-morbidity potentially life-saving.
- 01JLNS is caused by recessive variants in KCNQ1 or KCNE1 genes affecting potassium channels in both the inner ear and heart.
- 02Hallmark features: severe-to-profound bilateral congenital SNHL plus prolonged QTc interval on ECG.
- 03Cardiac risk includes syncope, torsades de pointes, and sudden cardiac death, especially in undiagnosed children.
- 04Management combines beta-blockers or implantable cardioverter-defibrillators (ICDs) for cardiac risk with hearing aids or cochlear implants for hearing loss.
- 05Genetic counselling is essential; parents are typically heterozygous carriers with Romano-Ward syndrome (cardiac-only phenotype).
JLNS is characterised by severe congenital sensorineural hearing loss and cardiac long QT syndrome caused by biallelic variants in KCNQ1 or KCNE1.
guidelinesupportedChildren with JLNS are at elevated risk of sudden cardiac death if the long QT component is undiagnosed or untreated.
guidelinesupportedBeta-blockers and ICDs are effective cardiac management strategies in JLNS patients.
guidelinepartially supported- PMID
- 20301579
- Journal
- GeneReviews (NCBI Bookshelf)
- Publication type
- review
- Evidence level
- 5
- Population
- Individuals with biallelic KCNQ1 or KCNE1 pathogenic variants presenting with congenital sensorineural hearing loss and long QT syndrome
- Intervention
- Genetic and clinical characterisation, cardiac and audiological management strategies for JLNS
Primary outcomes
Clinical diagnostic criteria for JLNS; Cardiac event risk (syncope, sudden cardiac death) and mitigation; Audiological rehabilitation outcomes (hearing aids, cochlear implants)