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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Specialty: Cardiology, Genetics, Pharmacology, clinical, Clinical Laboratory
