Jervell-Lange Nielsen Syndrome

**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).

**Tree numbers:** - C14.280.067.565.440 - C14.280.123.625.440 - C16.131.240.400.715.440

**Synonyms:** - Deafness, Congenital, and Functional Heart Disease - Prolonged QT Interval in EKG and Sudden Death - Surdo-Cardiac Syndrome - Jervell and Lange-Nielsen Syndrome - Cardioauditory Syndrome of Jervell and Lange-Nielsen - Cardio-Auditory-Syncope Syndrome