Jervell and Lange-Nielsen syndrome


Jervell and Lange-Nielsen syndrome
Jervell and Lange-Nielsen syndrome
Classification and external resources
ICD-9 426.82
OMIM 220400
DiseasesDB 7249
MeSH D029593

Jervell and Lange-Nielsen syndrome, a type of long QT syndrome, causes the cardiac muscle to take longer than usual to recharge between beats. If untreated, the irregular heartbeats, called arrhythmias, can lead to fainting, seizures, or sudden death. The disorder also contributes to hearing loss.

Genetic prevalence

Jervell and Lange-Nielsen syndrome has an autosomal recessive pattern of inheritance.

This condition is an autosomal recessive disorder that affects an estimated 1.6 to 6 in 1 million children, and is responsible for less than 10 percent of all cases of long QT syndrome.

Mutations in the KCNE1 and KCNQ1 genes cause Jervell and Lange-Nielsen syndrome. The proteins produced by these two genes work together to form a potassium channel that transports positively charged potassium ions out of cells. The movement of potassium ions through these channels is critical for maintaining the normal functions of the inner ear and cardiac muscle.

About 90 percent of cases of Jervell and Lange-Nielsen syndrome are caused by mutations in the KCNQ1 gene. KCNE1 mutations are responsible for the remaining 10 percent of cases. Mutations in these genes alter the usual structure and function of potassium channels or prevent the assembly of normal channels. These changes disrupt the flow of potassium ions in the inner ear and in cardiac muscle, leading to the hearing loss and irregular heart rhythm characteristic of Jervell and Lange-Nielsen syndrome.

Treatment

Beta-blocker like propranolol if the patients is asymptomatic or there is no documented syncope. Beta-blocker + dual mode/dual chamber/dual sensing pacemaker if the patient is symptomatic or there is documented syncope.

External links

This article incorporates public domain text from The U.S. National Library of Medicine


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Look at other dictionaries:

  • Jervell and Lange-Nielsen syndrome — Jer·vell and Lange Niel·sen syndrome (yer velґ lahngґə nēlґsən) [Anton Jervell, Norwegian cardiologist, 1901–1987; Friedrik Lange Nielsen, Norwegian cardiologist, 20th century] see under syndrome …   Medical dictionary

  • Jervell and Lange-Nielsen syndrome — a rare, autosomal recessive form of the long QT syndrome, characterized by neural hearing loss and syncope, sometimes with ventricular fibrillation and sudden death …   Medical dictionary

  • Syndrome de jervell et lange-nielsen — Autre nom Syndrome cardio surdité Référence MIM …   Wikipédia en Français

  • Syndrome de Jervell et Lange-Nielsen — Référence MIM 220400 Transmission Récessive Chromosome 11p15.5 21q22.1 q22.2 Gène KCNQ1 KCNE1 Empreinte parentale …   Wikipédia en Français

  • Jervell- und Lange-Nielsen-Syndrom — Dieser Artikel erläutert das Long QT Syndrom; es existiert aber auch das (wesentlich seltenere) Short QT Syndrom. Klassifikation nach ICD 10 I45.8 Sonstige näher bezeichnete kardiale …   Deutsch Wikipedia

  • Jervell und Lange-Nielsen-Syndrom — Dieser Artikel erläutert das Long QT Syndrom; es existiert aber auch das (wesentlich seltenere) Short QT Syndrom. Klassifikation nach ICD 10 I45.8 Sonstige näher bezeichnete kardiale …   Deutsch Wikipedia

  • Lange-Nielsen — F., 20th century Norwegian cardiologist. See Jervell and Lange Nielsen syndrome …   Medical dictionary

  • Syndrome de Jervel-Lange et Nilsen — Syndrome de Jervell et Lange Nielsen Syndrome de Jervell et Lange Nielsen Autre nom Syndrome cardio surdité Référence MIM …   Wikipédia en Français

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Jervell — Anton, 20th century Norwegian cardiologist. See J. and Lange Nielsen syndrome …   Medical dictionary