U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Jervell and Lange-Nielsen syndrome(JLNS)

MedGen UID:
5929
Concept ID:
C0022387
Disease or Syndrome
Synonyms: Jervell-Lange Nielsen syndrome; JLNS
SNOMED CT: Jervell and Lange-Nielsen syndrome (373905003); Cardio-auditory syndrome (373905003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0002441
OMIM®: 220400
OMIM® Phenotypic series: PS220400
Orphanet: ORPHA90647

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]
Authors:
Lisbeth Tranebjærg  |  Ricardo A Samson  |  Glenn Edward Green   view full author information

Additional description

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

Professional guidelines

PubMed

Marcinkeviciene A, Rinkuniene D, Puodziukynas A
Medicina (Kaunas) 2022 Nov 21;58(11) doi: 10.3390/medicina58111694. PMID: 36422233Free PMC Article
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
Ackerman MJ
Semin Pediatr Neurol 2005 Mar;12(1):52-8. doi: 10.1016/j.spen.2005.02.002. PMID: 15929465

Recent clinical studies

Etiology

Marcinkeviciene A, Rinkuniene D, Puodziukynas A
Medicina (Kaunas) 2022 Nov 21;58(11) doi: 10.3390/medicina58111694. PMID: 36422233Free PMC Article
Faridi R, Tona R, Brofferio A, Hoa M, Olszewski R, Schrauwen I, Assir MZK, Bandesha AA, Khan AA, Rehman AU, Brewer C, Ahmed W, Leal SM, Riazuddin S, Boyden SE, Friedman TB
Hum Mutat 2019 Feb;40(2):162-176. Epub 2018 Dec 12 doi: 10.1002/humu.23689. PMID: 30461122Free PMC Article
Bostan O, Temel ŞG, Cangül H, Archer CN, Çil E
Pediatr Cardiol 2013;34(8):2063-7. Epub 2013 Feb 12 doi: 10.1007/s00246-013-0634-3. PMID: 23400408
Tranebjaerg L, Bathen J, Tyson J, Bitner-Glindzicz M
Am J Med Genet 1999 Sep 24;89(3):137-46. PMID: 10704188
Ilhan A, Tuncer C, Komsuoglu SS, Kali S
Pediatr Neurol 1999 Nov;21(5):809-13. doi: 10.1016/s0887-8994(99)00100-9. PMID: 10593671

Diagnosis

Zhao N, Yu Z, Cai Z, Chen W, He X, Huo Z, Lin X
BMC Cardiovasc Disord 2023 Aug 12;23(1):399. doi: 10.1186/s12872-023-03417-2. PMID: 37568094Free PMC Article
Nakano Y, Shimizu W
J Hum Genet 2016 Jan;61(1):51-5. Epub 2015 Jun 25 doi: 10.1038/jhg.2015.74. PMID: 26108145
Bostan O, Temel ŞG, Cangül H, Archer CN, Çil E
Pediatr Cardiol 2013;34(8):2063-7. Epub 2013 Feb 12 doi: 10.1007/s00246-013-0634-3. PMID: 23400408
Ilhan A, Tuncer C, Komsuoglu SS, Kali S
Pediatr Neurol 1999 Nov;21(5):809-13. doi: 10.1016/s0887-8994(99)00100-9. PMID: 10593671
Cusimano F, Martines E, Rizzo C
Int J Pediatr Otorhinolaryngol 1991 Jul;22(1):49-58. doi: 10.1016/0165-5876(91)90096-t. PMID: 1917338

Therapy

Marcinkeviciene A, Rinkuniene D, Puodziukynas A
Medicina (Kaunas) 2022 Nov 21;58(11) doi: 10.3390/medicina58111694. PMID: 36422233Free PMC Article
Wu X, Zhang L, Li Y, Zhang W, Wang J, Cai C, Lin X
Nat Commun 2021 Jan 29;12(1):697. doi: 10.1038/s41467-020-20808-7. PMID: 33514733Free PMC Article
Früh A, Siem G, Holmström H, Døhlen G, Haugaa KH
Heart Rhythm 2016 Nov;13(11):2186-2192. Epub 2016 Jul 20 doi: 10.1016/j.hrthm.2016.07.020. PMID: 27451284
Eftekharian A, Mahani MH
Int J Pediatr Otorhinolaryngol 2015 Sep;79(9):1544-7. Epub 2015 Jul 14 doi: 10.1016/j.ijporl.2015.07.012. PMID: 26205899
Mizusawa Y, Horie M, Wilde AA
Circ J 2014;78(12):2827-33. Epub 2014 Oct 1 doi: 10.1253/circj.cj-14-0905. PMID: 25274057

Prognosis

Zhang Y, Li X, Yang Y, Wang J, Gao X, Fan M
Europace 2020 Dec 23;22(12):1880-1884. doi: 10.1093/europace/euaa154. PMID: 32830254
Uysal F, Turkgenc B, Toksoy G, Bostan OM, Evke E, Uyguner O, Yakicier C, Kayserili H, Cil E, Temel SG
BMC Med Genet 2017 Oct 16;18(1):114. doi: 10.1186/s12881-017-0474-8. PMID: 29037160Free PMC Article
Vyas B, Puri RD, Namboodiri N, Nair M, Sharma D, Movva S, Saxena R, Bohora S, Aggarwal N, Vora A, Kumar J, Singh T, Verma IC
Am J Med Genet A 2016 Jun;170(6):1510-9. Epub 2016 Apr 4 doi: 10.1002/ajmg.a.37636. PMID: 27041150
Sanyal SK, Kaul KK, Hussein A, Wilroy RS, Agarwal K, Sohel S
Cardiol Young 2013 Aug;23(4):530-9. Epub 2013 May 13 doi: 10.1017/S1047951113000164. PMID: 23668803
Schwartz PJ, Spazzolini C, Crotti L, Bathen J, Amlie JP, Timothy K, Shkolnikova M, Berul CI, Bitner-Glindzicz M, Toivonen L, Horie M, Schulze-Bahr E, Denjoy I
Circulation 2006 Feb 14;113(6):783-90. Epub 2006 Feb 6 doi: 10.1161/CIRCULATIONAHA.105.592899. PMID: 16461811

Clinical prediction guides

Ergül Y, Tunca Şahin G, Kafalı HC, Öztürk E, Özgür S, Haydin S, Güzeltaş A
Anatol J Cardiol 2021 Apr;25(4):250-257. doi: 10.14744/AnatolJCardiol.2020.08791. PMID: 33830046Free PMC Article
Zhang Y, Li X, Yang Y, Wang J, Gao X, Fan M
Europace 2020 Dec 23;22(12):1880-1884. doi: 10.1093/europace/euaa154. PMID: 32830254
Uysal F, Turkgenc B, Toksoy G, Bostan OM, Evke E, Uyguner O, Yakicier C, Kayserili H, Cil E, Temel SG
BMC Med Genet 2017 Oct 16;18(1):114. doi: 10.1186/s12881-017-0474-8. PMID: 29037160Free PMC Article
Vyas B, Puri RD, Namboodiri N, Nair M, Sharma D, Movva S, Saxena R, Bohora S, Aggarwal N, Vora A, Kumar J, Singh T, Verma IC
Am J Med Genet A 2016 Jun;170(6):1510-9. Epub 2016 Apr 4 doi: 10.1002/ajmg.a.37636. PMID: 27041150
Schwartz PJ, Spazzolini C, Crotti L, Bathen J, Amlie JP, Timothy K, Shkolnikova M, Berul CI, Bitner-Glindzicz M, Toivonen L, Horie M, Schulze-Bahr E, Denjoy I
Circulation 2006 Feb 14;113(6):783-90. Epub 2006 Feb 6 doi: 10.1161/CIRCULATIONAHA.105.592899. PMID: 16461811

Recent systematic reviews

Metcalfe C, Muzaffar J, Monksfield P, Bance M
J Int Adv Otol 2020 Dec;16(3):456-462. doi: 10.5152/iao.2020.9025. PMID: 33136028Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...