The Jervell and Lange-Nielsen Syndrome is a rare syndrome associated with the long QT syndrome (LQTS).


Mutations causing the syndrome may involve one of the following::

(1) KCNQ1 on 11p15.5-p15.4 with locus name LQT1 (majority of cases)

(2) KCNE1 on 21q22.12 with locus name LQT5 (minority of cases)


Inheritance: autosomal recessive or de novo


Classic presentation: deaf child with syncope during periods of fright, stress or exercise


Clinical findings:

(1) congenital bilateral sensorineural hearing loss

(2) QTc > 500 msec

(3) syncope triggered by any event that increases the heart rate

(4) tachyarrhythmias (ventricular tachycardia, torsade de pointes, ventricular fibrillation)

(5) iron-deficiency anemia


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