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Diseases

Genetic and Rare Diseases Information Center (GARD)

Jervell Lange-Nielsen syndrome


Other Names for this Disease
  • JLNS1
  • Deafness, congenital, and functional heart disease
  • Prolonged QT interval in EKG and sudden death
  • Cardioauditory syndrome of Jervell and Lange-Nielsen
  • Surdo-cardiac syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Jervell Lange-Nielsen syndrome (JLNS) is an inherited disorder characterized by deafness present at birth and abnormalities of the electrical system of the heart. It is a form of long QT syndrome. This refers to the QT interval measurement seen on the electrocardiogram. The severity of cardiac symptoms seen in individuals varies from no apparent symptoms to increasing heartbeat (tachycardia), fainting, and cardiac arrest. There are two different types of JLNS type: 1, caused by mutations in the KCNQ1 gene, and type 2, caused by mutations in the KCNE1 gene. Both types are inherited in an autosomal recessive manner. The treatment of individuals with JLNS focuses on treating hearing loss utilizing devices such as cochlear implants and preventing other symptoms such as fainting and cardiac arrest.[1][2][3]
Last updated: 6/17/2016

References

  1. Dr Giuseppe CELANO, Dr Lia CROTTI, Dr Federica DAGRADI, Pr Peter SCHWARTZ. Jervell and Lange-Nielsen syndrome. Orphanet. October 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90647. Accessed 6/17/2016.
  2. Theresa Lai, Lisbeth Tranebjærg. Jervell and Lange-Nielsen syndrome. NORD. 2016; http://rarediseases.org/rare-diseases/jervell-and-lange-nielsen-syndrome/.
  3. Jervell and Lange-Nielsen syndrome. Genetics Home Reference. April 2006; https://ghr.nlm.nih.gov/condition/jervell-and-lange-nielsen-syndrome. Accessed 6/17/2016.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Jervell Lange-Nielsen syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    JLNS type 1
    JLNS type 2
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Jervell Lange-Nielsen syndrome. Click on the link to view a sample search on this topic.

Videos/Presentations

Other Names for this Disease
  • JLNS1
  • Deafness, congenital, and functional heart disease
  • Prolonged QT interval in EKG and sudden death
  • Cardioauditory syndrome of Jervell and Lange-Nielsen
  • Surdo-cardiac syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.