Jervell and Lange-Nielsen Syndrome

National Organization for Rare Disorders, Inc.

Skip to the navigation

Important
It is possible that the main title of the report Jervell and Lange-Nielsen Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Summary

Jervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The severity of cardiac symptoms associated with JLNS varies from case to case. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarrhythmias) resulting in episodes of unconsciousness (syncope), cardiac arrest, and potentially sudden death. Physical activity, excitement, fright, or stress may trigger the onset of these symptoms. Fainting during the aforementioned activities is also a classic sign of JLNS. JLNS is usually detected during early childhood and is inherited as an autosomal recessive genetic disorder. More than half of the untreated cases of JLNS result in death before the age of 15.

Introduction

Anton Jervell and Fred Lange-Nielsen provided the first complete description of the electrical conduction problem in the heart called long QT syndrome (LQTS) in 1957. LQTS refers to the QT-interval measured on the electrocardiogram that indicates that the heart muscle is taking longer than usual to recharge between beats. It predisposes those affected to tachyarrhythmias called torsade de pointes (TdP) which leads to syncope and may cause sudden cardiac death.

Supporting Organizations

American Academy of Audiology

11480 Commerce Park Drive
Suite 220
Reston, VA 20191
Tel: 703-790-8466
Fax: 703-790-8631
Tel: 800-222-2336
Email: infoaud@audiology.org
Website: http://www.audiology.org

American Heart Association

7272 Greenville Avenue
Dallas, TX 75231
Tel: (214)784-7212
Fax: (214)784-1307
Tel: (800)242-8721
Email: Review.personal.info@heart.org
Website: http://www.heart.org

Fetal Hope Foundation

9786 South Holland Street
Littleton, CO 80127
USA
Tel: (303)932-0553
Tel: (877)789-4673
Email: info@fetalhope.org
Website: http://www.fetalhope.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

Hearing Health Foundation

363 Seventh Avenue, 10th Floor
New York, NY 10016-3904
United States
Tel: (212)257-6140
Fax: (212)257-6139
Tel: (866)454-3924
Email: info@hearinghealthfoundation.org
Website: http://hearinghealthfoundation.org/home

International Long QT Syndrome Registry

Heart Research Follow-up Program
Box 653
Rochester, NY 14642-8653
Tel: (585)276-0016
Fax: (585)273-5283
Email: heartajm@heart.rochester.edu

NIH/National Heart, Lung and Blood Institute

P.O. Box 30105
Bethesda, MD 20892-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov
Website: http://www.nhlbi.nih.gov/

QTsyndrome.ch

Ronnerweg 2
Nidau, 2560
Switzerland
Tel: 41794741535
Email: info@qtsyndrome.ch
Website: http://www.qtsyndrome.ch/index.html

Sudden Arrhythmia Death Syndromes Foundation

508 E. South Temple
Suite 202
Salt Lake City, UT 84102
USA
Tel: (801)531-0937
Fax: (801)531-0945
Tel: (800)786-7723
Email: laura@sads.org
Website: http://www.sads.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  1/16/2013
Copyright  2013 National Organization for Rare Disorders, Inc.