Jervell and Lange-Nielsen syndrome
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A child with congenital profound sensorineural hearing loss has syncopal episodes during exercise. ECG reveals a markedly prolonged QTc interval of 550 ms.
AR; KCNQ1 or KCNE1 (potassium channel genes)
- Same genes as Long QT type 1 (AD) - but homozygous/compound het
- Profound congenital sensorineural hearing loss
- Long QT syndrome (more severe than typical LQTS)
- Risk of syncope, cardiac arrhythmias, sudden death
- Triggered by exercise, emotion, swimming
- ECG showing markedly prolonged QTc
- Audiometry confirms congenital profound sensorineural hearing loss
- Molecular testing of KCNQ1 and KCNE1 confirms the diagnosis
- Biallelic (homozygous/compound heterozygous) variants distinguish this autosomal recessive form from autosomal dominant Romano-Ward long QT
- Beta-blockers, ICD consideration, avoid QT-prolonging drugs
"jEARvell and LONG-Nielsen": EAR (deafness) and LONG QT, the two key features, are right in the name
AR inheritance: Jervell and Lange-Nielsen are 2 people, so you need both parents to be carriers (autosomal recessive). This is unlike most other congenital arrhythmias, which are AD
Long eponymous name = Long QT: Syndromes with long, hyphenated names (Jervell and Lange-Nielsen, Andersen-Tawil, Romano-Ward) are associated with Long QT