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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.

    Findings With Unspecified Accuracy

    Finding SensitivitySpecificity Comments, Study
    Sensorineural hearing loss (SNHL) Edit No accuracy specified.

    Study: no study specified.

    Prolonged QTc Edit No accuracy specified.

    Study: no study specified.

    KVLQT1 and KCNE1 genetic mutations Edit No accuracy specified.

    Study: no study specified.