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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The sensitivity and specificity
of findings for Jervell and Lange-Nielsen syndrome (JLNS) are listed below.
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