Jervell and Lange-Nielsen syndrome 1
- Synonyms
- Cardioauditory syndrome of Jervell and Lange-Nielsen; Deafness, congenital, and functional heart disease; Prolonged QT interval in EKG and sudden death; Surdo-cardiac syndrome
Summary
Excerpted from the GeneReview:Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital profound bilateral sensorineural hearing loss and long QTc, usually >500 msec. Prolongation of the QTc interval is associated with tachyarrhythmias, including ventricular tachycardia, episodes of torsade de pointes ventricular tachycardia, and ventricular fibrillation, which may culminate in syncope or sudden death. Iron-deficient anemia and elevated levels of gastrin are also frequent features of JLNS. The classic presentation of JLNS is a deaf child who experiences syncopal episodes during periods of stress, exercise, or fright. Fifty percent of individuals with JLNS had cardiac events before age three years. More than half of untreated children with JLNS die before age 15 years.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Lisbeth Tranebjærg
- Ricardo A Samson
- Glenn Edward Green
- view full author information
Available tests
58 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (58 available)
Clinical features
Help- Abnormality of the cardiovascular system
- Prolonged QT interval
Prolonged QT interval
- MedGen UID: 57494
- Concept ID: C0151878
- Finding: Finding
Abnormality of the cardiovascular system
- Prolonged QTc interval
Prolonged QTc interval
- MedGen UID: 294666
- Concept ID: C1560305
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Syncope
Syncope
- MedGen UID: 21443
- Concept ID: C0039070
- Finding: Sign or Symptom
Abnormality of the cardiovascular system
- Torsades de pointes
Torsades de pointes
- MedGen UID: 21214
- Concept ID: C0040479
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Prolonged QT interval
- Constitutional symptom
- Sudden cardiac death
Sudden cardiac death
- MedGen UID: 38841
- Concept ID: C0085298
- Finding: Pathologic Function
Constitutional symptom
- Sudden cardiac death
- Ear malformation
- Congenital sensorineural hearing impairment
Congenital sensorineural hearing impairment
- MedGen UID: 356101
- Concept ID: C1865866
- Finding: Disease or Syndrome
Ear malformation
- Congenital sensorineural hearing impairment
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