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Jervell and Lange-Nielsen syndrome 1(JLNS1)

MedGen UID:
1646925
•Concept ID:
C4551509
•
Disease or Syndrome
Synonyms: Cardioauditory syndrome of Jervell and Lange-Nielsen; Deafness, congenital, and functional heart disease; JLNS1; Prolonged QT interval in EKG and sudden death; Surdo-cardiac syndrome
 
Gene (location): KCNQ1 (11p15.5-15.4)
Related gene: KCNE1
 
Monarch Initiative: MONDO:0024540
OMIM®: 220400

Disease characteristics

Excerpted from the GeneReview: Jervell and Lange-Nielsen Syndrome
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. [from GeneReviews]
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

Additional descriptions

From OMIM
The Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death (Jervell and Lange-Nielsen, 1957). Genetic Heterogeneity of Jervell and Lange-Nielsen Syndrome Also see JLNS2 (612347), caused by mutation in the KCNE1 gene (176261) on chromosome 21q22.  http://www.omim.org/entry/220400
From MedlinePlus Genetics
Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. Beginning in early childhood, the irregular heartbeats increase the risk of fainting (syncope) and sudden death.  https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome

Clinical features

From HPO
Sudden cardiac death
MedGen UID:
38841
•Concept ID:
C0085298
•
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
See: Feature record | Search on this feature
Syncope
MedGen UID:
21443
•Concept ID:
C0039070
•
Sign or Symptom
Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
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Torsades de pointes
MedGen UID:
21214
•Concept ID:
C0040479
•
Disease or Syndrome
A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.
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Prolonged QT interval
MedGen UID:
57494
•Concept ID:
C0151878
•
Finding
Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
See: Feature record | Search on this feature
Prolonged QTc interval
MedGen UID:
294666
•Concept ID:
C1560305
•
Pathologic Function
A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.
See: Feature record | Search on this feature
Congenital sensorineural hearing impairment
MedGen UID:
356101
•Concept ID:
C1865866
•
Disease or Syndrome
A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Genetic testing hearing loss: The challenge of non syndromic mimics.
Gooch C, Rudy N, Smith RJ, Robin NH
Int J Pediatr Otorhinolaryngol 2021 Nov;150:110872. Epub 2021 Aug 16 doi: 10.1016/j.ijporl.2021.110872. PMID: 34433113Free PMC Article
Congenital and acquired long QT syndrome. Current concepts and management.
Chiang CE
Cardiol Rev 2004 Jul-Aug;12(4):222-34. doi: 10.1097/01.crd.0000123842.42287.cf. PMID: 15191637
Torsade de pointes. Mechanisms and management.
Napolitano C, Priori SG, Schwartz PJ
Drugs 1994 Jan;47(1):51-65. doi: 10.2165/00003495-199447010-00004. PMID: 7510621

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