Jervell and Lange-Nielsen syndrome

Also known as: cardioauditory syndrome; JLNS

Autosomal recessive long QT syndrome with congenital bilateral sensorineural deafness.

Medical specialty: Cardiology
Subspecialty: Cardiology / Cardiac electrophysiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, deafness congenital and syncope in early childhood
Gene(s) involved: KCNE1, KCNQ1

Etiology & mechanism

Biallelic loss of KCNQ1 or KCNE1 impairs the IKs current in the heart and the endolymph potassium secretion in the inner ear.

Gene(s) involved (2)

KCNE1KCNQ1

Symptoms & signs (6)

congenital deafnessprolonged qt intervalseizure-like episodessudden deathsyncopetorsades de pointes

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.