GetTheDiagnosis.org

Welcome, guest.
Login or Sign up to edit.

Add an entry

Search:
 

Tools

Add a finding for this diagnosis

Add prevalence for this diagnosis

Switch to display mode

Switch to sensitivity and specificity

Sort findings by Tag

Sort findings by Differential Diagnosis

Jump To

Findings With Unspecified Accuracy

Jervell and Lange-Nielsen syndrome (JLNS): Likelihood Ratios

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

    [Edit Diagnosis] [Merge dx] [Add prevalence]

    Tags: None. Tag this Diagnosis.

    Prevalence

    Population / CalculatorPrevalence Comments / Study / Link
    Among children with congenital sensorineural hearing loss 0.21% PMID:9326683
    More, Edit...

    The likelihood ratios 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 +LR-LR
    [ + ] Sensorineural hearing loss (SNHL) No accuracy specified.
    [ + ] Prolonged QTc No accuracy specified.
    [ + ] KVLQT1 and KCNE1 genetic mutations No accuracy specified.