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).
Synonyms:
exact_synonym:
Cardioauditory Syndrome of Jervell and Lange Nielsen; Deafness, Congenital, and Functional Heart Disease; JERVELL AND LANGE-NIELSEN SYNDROME 1; JERVELL AND LANGE-NIELSEN SYNDROME 2; JLNS1; JLNS2; Jervell and Lange Nielsen Syndrome; Prolonged QT Interval in EKG and Sudden Death; Surdo Cardiac Syndrome; Surdo-Cardiac Syndromes
