Definition: A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).
Other names Syndrome, Surdo-Cardiac; Syndrome, Jervell-Lange Nielsen; Surdo-Cardiac Syndromes; Surdo Cardiac Syndrome; Jervell and Lange Nielsen Syndrome; Jervell Lange Nielsen Syndrome; Cardioauditory Syndrome of Jervell and Lange Niels; Surdo-Cardiac Syndrome; Prolonged QT Interval in EKG and Sudden Death; Jervell and Lange-Nielsen Syndrome; Deafness, Congenital, and Functional Heart Disease; Cardioauditory Syndrome of Jervell and Lange-Niels
