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Findings With Unspecified Accuracy

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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    Population / CalculatorPrevalence 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.

    Pre-Test Probability (Prevalence): %. Post-Test Probability (Predictive Value): %. Switch to display mode.
    **Note that calculating probabilities from more than one finding is inherently inaccurate because findings are not independent. (For example, using two positive findings that share a common pathogenesis is likely to overestimate the true probability.)
    Findings With Unspecified Accuracy
    FindingResult SensitivitySpecificity
    [ + ] Sensorineural hearing loss (SNHL) No accuracy specified.
    [ + ] Prolonged QTc No accuracy specified.
    [ + ] KVLQT1 and KCNE1 genetic mutations No accuracy specified.