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Jervell and Lange-Nielsen syndrome features hearing loss, long QTc, and ~50% cardiac event risk before age 3.
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Jervell and Lange-Nielsen syndrome is a severe congenital disorder characterized by profound hearing loss and marked QTc prolongation, carrying a high risk of early, life-threatening arrhythmias if untreated.
Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital profound bilateral sensorineural hearing loss and long QTc, usually >500 msec. Prolongation of the QTc interval is associated with tachyarrhythmias, including ventricular tachycardia, episodes of torsade de pointes ventricular tachycardia, and ventricular fibrillation, which may culminate in syncope or sudden death. Iron-deficient anemia and elevated levels of gastrin are also frequent features of JLNS. The classic presentation of JLNS is a deaf child who experiences syncopal episodes during periods of stress, exercise, or fright. Fifty percent of individuals with JLNS had cardiac events before age three years. More than half of untreated children with JLNS die before age 15 years.
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Tranebjærg et al. (2014) conducted a review in Jervell and Lange-Nielsen syndrome. Jervell and Lange-Nielsen syndrome is characterized by congenital profound bilateral sensorineural hearing loss and long QTc (>500 msec), with 50% of individuals having cardiac events before age 3.
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