Jervell and Lange-Nielsen syndrome
עודכן לאחרונה 18 Aug 2020
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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.
תיאור
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.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Autosomal recessive long QT syndrome (LQTS)
Cardio-auditory-syncope syndrome
Cardioauditory syndrome of Jervell and Lange-Nielsen
Deafness, congenital, and functional heart disease
Jervell-Lange Nielsen syndrome
JLNS
Prolonged QT interval in EKG and sudden death
Surdo-cardiac syndrome
Related patient information and medicines
Patient information leaflet
הריון מרובה עוברים
...syndrome is more complicated for multiple pregnanciesNon-invasive diagnostic testing (otherwise known as non-invasive prenatal testing or NIPT) became available in the NHS in 2021, for women with a risk of 1 in 150 or more for Down's syndrome, Edwards' syndrome or Patau's syndrome. The specialist team in הריון מרובה עוברים You will usually be.
Patient information leaflet
צלע צווארית
About 1 in 100 people are born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. This happens if the cervical rib squashes the nerves and blood vessels going into the arm. Treatment can include painkillers, physiotherapy and sometimes surgery to relieve the compression caused.
Patient information leaflet
תסמונת הרגליים חסרות המנוחה
Restless legs syndrome causes uncomfortable feelings in your legs. As a result, you have an urge to move your legs which gives temporary relief. Symptoms come on when resting and are worse at the end of the day. Medication ... What is restless legs syndrome. Restless legs syndrome (RLS) is sometimes called Willis-Ekbom disease after the doctors.
Patient information leaflet
אנגינה מיקרווסקולרית
There is no agreed definition for CSX. The underlying cause may be sudden narrowing (spasm) of normal coronary arteries without any evidence of atheromatous fatty plaques. What is cardiac syndrome X. Cardiac syndrome X (CSX) is thought to be a type of angina. In CSX chest pain is felt when the heart works harder but the heart arteries appear to be.
Patient information leaflet
תסמונת קרי דו שא
תסמונת קרי דו שא מטופל? a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of.
Patient information leaflet
הפרעות ספקטרום היפרמוביליות
הפרעות ספקטרום היפרמוביליות include all people with what used to be called joint hypermobility syndrome, and before that benign joint hypermobility syndrome. Hypermobility spectrum disorders (HSDs) are a group of conditions that involve joint hypermobility (increased range of motion in the joints, sometimes referred to as "loose joints") and.
קריאה נוספת והפניות
- Jervell and Lange-Nielsen syndrome; MedlinePlus, National Library of Medicine.
- Faridi R, Przybylski R, Saenen J, Hertzano R, Newman WG, Friedman TB. Jervell and Lange-Nielsen Syndrome. 2002 Jul 29 [updated 2026 Oct 15]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1405/
- Mizusawa Y, Horie M, Wilde AA. Genetic and clinical advances in congenital long QT syndrome. Circ J. 2014;78(12):2827-33. doi: 10.1253/circj.cj-14-0905. Epub 2014 Oct 1.
- Modell SM, Lehmann MH. The long QT syndrome family of cardiac ion channelopathies: a HuGE review. Genet Med. 2006 Mar;8(3):143-55. doi: 10.1097/01.gim.0000204468.85308.86.
- Nakano Y, Shimizu W. Genetics of long-QT syndrome. J Hum Genet. 2016 Jan;61(1):51-5. doi: 10.1038/jhg.2015.74. Epub 2015 Jun 25.
- 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 the diagnosis 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. Epub 2013 Aug 30. No abstract available.
- Schwartz PJ, Crotti L. QTc behavior during exercise and genetic testing for the long-QT syndrome. Circulation. 2011 Nov 15;124(20):2181-4. doi: 10.1161/CIRCULATIONAHA.111.062182. No abstract available.
- 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, molecular basis, and clinical outcome. Circulation. 2006 Feb 14;113(6):783-90. doi: 10.1161/CIRCULATIONAHA.105.592899. Epub 2006 Feb 6.
- 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-Nielsen syndrome. Mol Genet Metab. 2002 Apr;75(4):308-16. doi: 10.1016/S1096-7192(02)00007-0.
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