Jervell and Lange-Nielsen syndrome (JLNS): Sensitivity and Specificity

Introduction: - Syndrome characterized by congenital deafness, prolonged Q-T interval, and syncopal attacks

Hearing loss is congenital, bilateral, and severe to profound

AR inheritence, genetically heterogeneous with mutations in KVLQT1 and KCNE1

These genes encode for subunits of a potassium channel expressed in the heart and inner ear

Romano-Ward syndrome is an AD inherited genetic disease with long Q-T syndrome without associated

The prolonged Q-T interval can lead to ventricular arrhythmias, syncopal episodes, and death in childhood

Effective treatment with â-adrenergic blockers reduces mortality from 71% to 6%

Cummings 5th Ed. Chapter 147 Genetic sensorineural hearing loss

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Prevalence

Population / Calculator	Prevalence	Comments / Study / Link
Among children with congenital sensorineural hearing loss	0.21%	PMID:9326683
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The sensitivity and specificity of findings for Jervell and Lange-Nielsen syndrome (JLNS) are listed below. See the left navigation bar to change the display.

Finding	Sensitivity	Specificity	Comments, Study
Sensorineural hearing loss (SNHL)	No accuracy specified.		Study: no study specified.
Prolonged QTc	No accuracy specified.		Study: no study specified.
KVLQT1 and KCNE1 genetic mutations	No accuracy specified.		Study: no study specified.