Jervell and Lange-Nielsen syndrome

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

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Synonyms and keywords:Autosomal recessive long QT syndrome (LQTS), cardioauditory syndrome, cardioauditory syndrome of Jervell and Lange-Nielsen, deafness, congenital, and functional heart disease, Jervell and Lange-Nielsen (JLNS), surdocardiac syndrome

Overview

Jervell and Lange-Nielsen syndrome is a rare autosomal recessive condition that leads to sensorineural deafness, abnormal ventricular myocardial repolarization with results in long QT syndrome (LQTS) and other cardiac events. Jervell and Lange-Nielsen syndrome is due to KCNQ1 or KCNE1 gene mutations. The range of symptoms and severity of symptoms in Jervell and Lange-Nielsen syndrome differs from patient to patient.

Historical Perspective

  • Jervell and Lange-Nielsen syndrome (JLNS) was first discovered by Anton Jervell a Norwegian physician and Fred Lange-Nielsen a Norwegian doctor and jazz musician, in 1957.[1][2]

Classification

  • Jervell and Lange-Nielsen syndrome (JLNS) may be classified according into two subtypes:[3][4][5][6]
Type Chromosome Locus Gene Mutation Protein Involved
Jervell and Lange-Nielsen syndrome 1 11p15​.5-p15.4 KCNQ1 Potassium voltage-gated channel subfamily KQT member 1
Jervell and Lange-Nielsen syndrome 2 21q22​.12 KCNE1 Potassium voltage-gated channel subfamily E member 1


Pathophysiology

Physiology

The normal physiology of KCNQ1 and KCNE1 genes can be understood as follows:[7]

Pathogenesis

KCNQ1

KCNE1

Genetics

Causes

Genetic Causes

Differentiating Jervell and Lange-Nielsen syndrome from other Diseases

Epidemiology and Demographics

Incidence

  • The incidence of Jervell and Lange-Nielsen syndrome (JLNS) is approximately 1 per 100,000 individuals in Norway.[27][28]
  • The incidence of Jervell and Lange-Nielsen syndrome (JLNS) is approximately 1 per 100,000 individuals in Sweden.
  • It is estimated that Jervell and Lange-Nielsen syndrome (JLNS) affects 166,000 to 625,000 children worldwide.

Prevalence

  • The prevalence of Jervell and Lange-Nielsen syndrome (JLNS) is approximately 1:200,000 individuals in Norway.[1]

Age

  • The incidence of Jervell and Lange-Nielsen syndrome (JLNS) increases with age; the median age at diagnosis is 6.8 years.[29][30]
  • The exact time of presentation in Jervell and Lange-Nielsen syndrome (JLNS) is highly variable.

Gender

  • Jervell and Lange-Nielsen syndrome (JLNS) affects men and women equally. But the severity of cardiac events is much more common in men.[31]

Risk Factors

Screening

Natural History, Complications and Prognosis

Natural History

Complications

Prognosis

Diagnosis

Diagnostic Study of Choice

  • Molecular genetic testing is the gold standard test for the diagnosis of Jervell and Lange-Nielsen syndrome (JLNS).
  • The following result of molecular genetic testing is confirmatory of Jervell and Lange-Nielsen syndrome (JLNS):
    • KCNQ1 or KCNE1 pathogenic gene mutation variants identification

History and Symptoms

Common Symptoms

Common symptoms of Jervell and Lange-Nielsen syndrome (JLNS) include:

  • Congenital Deafness: Usually identified at the time of birth, most commonly sensorineural hearing loss
  • Syncope: Due to abnormal heart rhythm
  • Seizures: Most commonly grand mal seizures
  • Palpitations
  • Mild to moderate chest pain
  • Ventricular fibrillation
  • Sudden cardiac death

Physical Examination

HEENT

HEENT examination of patients with [disease name] is usually normal.

OR

  • Abnormalities of the head/hair may include ___
  • Evidence of trauma
  • Icteric sclera
  • Nystagmus
  • Extra-ocular movements may be abnormal
  • Pupils non-reactive to light / non-reactive to accommodation / non-reactive to neither light nor accommodation
  • Ophthalmoscopic exam may be abnormal with findings of ___
  • Hearing acuity may be reduced
  • Weber test may be abnormal (Note: A positive Weber test is considered a normal finding / A negative Weber test is considered an abnormal finding. To avoid confusion, you may write "abnormal Weber test".)
  • Rinne test may be positive (Note: A positive Rinne test is considered a normal finding / A negative Rinne test is considered an abnormal finding. To avoid confusion, you may write "abnormal Rinne test".)
  • Exudate from the ear canal
  • Tenderness upon palpation of the ear pinnae/tragus (anterior to ear canal)
  • Inflamed nares / congested nares
  • Purulent exudate from the nares
  • Facial tenderness
  • Erythematous throat with/without tonsillar swelling, exudates, and/or petechiae



Treatment

Template:WikiDoc Sources

References

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