Svensk definition
Ett autosomalt recessivt syndrom med onormal kardioelektrofysiologi, kännetecknat av en kombination av långt QT-syndrom och dövhet.
Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsens syndrom
Engelsk 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).
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Jervell Lange Nielsen Syndrome — Syndrome, Jervell-Lange Nielsen — Cardioauditory Syndrome of Jervell and Lange-Nielsen — Cardioauditory Syndrome of Jervell and Lange Nielsen — Cardio-Auditory-Syncope Syndrome — Cardio Auditory Syncope Syndrome — Cardio-Auditory-Syncope Syndromes — Syndrome, Cardio-Auditory-Syncope — Syndromes, Cardio-Auditory-Syncope — Deafness, Congenital, and Functional Heart Disease — Prolonged QT Interval in EKG and Sudden Death — Jervell and Lange-Nielsen Syndrome — Jervell and Lange Nielsen Syndrome — Surdo-Cardiac Syndrome — Surdo Cardiac Syndrome — Surdo-Cardiac Syndromes — Syndrome, Surdo-Cardiac — Jervell And Lange-Nielsen Syndrome 1 — Jervell And Lange Nielsen Syndrome 1