Jervell and Lange-Nielsen Syndrome

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Xu, C. Jervell and Lange-Nielsen Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4188 (accessed on 28 September 2026).

Xu C. Jervell and Lange-Nielsen Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4188. Accessed September 28, 2026.

Xu, Camila. "Jervell and Lange-Nielsen Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4188 (accessed September 28, 2026).

Xu, C. (2020, December 23). Jervell and Lange-Nielsen Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4188

Xu, Camila. "Jervell and Lange-Nielsen Syndrome." Encyclopedia. Web. 23 December, 2020.

Jervell and Lange-Nielsen Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome

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).

genetic conditions

References

Mizusawa Y, Horie M, Wilde AA. Genetic and clinical advances in congenitallong QT syndrome. Circ J. 2014;78(12):2827-33.
Modell SM, Lehmann MH. The long QT syndrome family of cardiac ionchannelopathies: a HuGE review. Genet Med. 2006 Mar;8(3):143-55. Review.
Nakano Y, Shimizu W. Genetics of long-QT syndrome. J Hum Genet. 2016Jan;61(1):51-5. doi: 10.1038/jhg.2015.74.
Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J,Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ,Shimizu W, Tomaselli G, Tracy C. HRS/EHRA/APHRS expert consensus statement on thediagnosis and management of patients with inherited primary arrhythmia syndromes:document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES,and AEPC in June 2013. Heart Rhythm. 2013 Dec;10(12):1932-63. doi:10.1016/j.hrthm.2013.05.014.
Schwartz PJ, Crotti L. QTc behavior during exercise and genetic testing forthe long-QT syndrome. Circulation. 2011 Nov 15;124(20):2181-4. doi:10.1161/CIRCULATIONAHA.111.062182.
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. The Jervell and Lange-Nielsen syndrome: natural history, molecularbasis, and clinical outcome. Circulation. 2006 Feb 14;113(6):783-90.
Tranebjærg L, Samson RA, Green GE. Jervell and Lange-Nielsen Syndrome. 2002Jul 29 [updated 2017 Aug 17]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE,Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1405/
Wang Z, Li H, Moss AJ, Robinson J, Zareba W, Knilans T, Bowles NE, Towbin JA. Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsensyndrome. Mol Genet Metab. 2002 Apr;75(4):308-16.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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