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Jervell-Lange Nielsen Syndrome (Jervell and Lange-Nielsen Syndrome)

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A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).

Also Known As:

Jervell and Lange-Nielsen Syndrome; Cardioauditory Syndrome of Jervell and Lange-Nielsen; Surdo-Cardiac Syndrome; Cardioauditory Syndrome of Jervell and Lange Nielsen; Jervell Lange Nielsen Syndrome; Jervell and Lange Nielsen Syndrome; Surdo Cardiac Syndrome; Surdo-Cardiac Syndromes; Syndrome, Jervell-Lange Nielsen; Syndrome, Surdo-Cardiac

Networked: 37 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Long QT Syndrome
2.	Romano-Ward Syndrome
3.	Deafness (Deaf Mutism)
4.	Cardiac Arrhythmias (Arrythmia)
5.	Arrhythmogenic Right Ventricular Dysplasia (Arrhythmogenic Right Ventricular Cardiomyopathy)

Experts

1.	Green, Kevin M J: 2 articles (08/2013 - 08/2012)
2.	Henderson, Lise: 2 articles (08/2013 - 08/2012)
3.	Broomfield, Stephen J: 2 articles (08/2013 - 08/2012)
4.	Bruce, Iain A: 2 articles (08/2013 - 08/2012)
5.	Ramsden, Richard T: 2 articles (08/2013 - 08/2012)
6.	Ackerman, Michael J: 2 articles (04/2013 - 08/2012)
7.	Früh, Andreas: 2 articles (04/2008 - 10/2005)
8.	Leren, Trond P: 2 articles (04/2008 - 10/2005)
9.	Ergenoglu, Pinar: 1 article (12/2015)
10.	Bali, Cagla: 1 article (12/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Jervell-Lange Nielsen Syndrome:

1.	Long QT syndrome type 1IBA 04/01/2013 - "CONCLUSIONS- In this study, we provide evidence that the recessive inheritance of a severe long-QT syndrome type 1 phenotype in the absence of an auditory phenotype may represent a more common pattern of long-QT syndrome inheritance than previously anticipated and that these cases should be treated as a higher-risk long-QT syndrome subset similar to their Jervell and Lange-Nielsen syndrome counterparts. "
2.	Potassium Channels (Potassium Channel)IBA 02/01/2001 - "The potassium channel gene KCNQ1 was sequenced in two unrelated Finnish patients with Jervell and Lange-Nielsen syndrome (JLNS), followed by genotyping of 114 LQTS probands and their available family members. " 11/01/1997 - "IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome." 08/07/2015 - "This genotype-phenotype correlation is analogous to that in KCNQ1 which causes autosomal dominant hereditary long QT syndrome 1 with milder phenotype and the autosomal recessive Jervell and Lange-Nielsen syndrome 1 with more severe phenotype due to deletion of the cytoplasmic C-terminus of the potassium channel. " 06/23/1998 - "Mutations of the KVLQT1 gene, a cardiac potassium channel, generate two allelic diseases: the Romano-Ward syndrome, inherited as a dominant trait, and the Jervell and Lange-Nielsen syndrome, inherited as an autosomal recessive trait. " 06/01/2013 - "Iron-deficiency anaemia, gastric hyperplasia, and elevated gastrin levels due to potassium channel dysfunction in the Jervell and Lange-Nielsen Syndrome."
3.	Ion Channels (Ion Channel)IBA 09/01/2014 - "Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive cardioauditory ion channel disorder characterized by congenital bilateral sensorineural deafness and long QT interval. " 03/01/1998 - "Once limited to discussions of the Jervell and Lange-Nielsen syndrome and Romano-Ward syndrome, the long QT syndrome (LQTS) is now understood to be a collection of genetically distinct arrhythmogenic cardiovascular disorders resulting from mutations in fundamental cardiac ion channels that orchestrate the action potential of the human heart. " 01/01/2015 - "Recessive mutations in the ion channel-encoding KCNQ1 gene may cause Jervell and Lange-Nielsen syndrome (JLNS), a fatal cardiac disease leading to arrhythmia and sudden cardiac death in young patients. "
4.	IronIBA 12/01/2014 - "Interestingly, impaired function of KCNQ1 results in iron-deficient anemia in Jervell and Lange-Nielsen syndrome patients. " 06/01/2013 - "We propose that the Jervell and Lange-Nielsen Syndrome phenotypically includes gastrointestinal symptoms/signs and secondary iron-deficiency anaemia owing to hypochlorhydria on the basis of KCNQ1 mutations. " 06/01/2013 - "Iron-deficiency anaemia, gastric hyperplasia, and elevated gastrin levels due to potassium channel dysfunction in the Jervell and Lange-Nielsen Syndrome."
5.	GastrinsIBA 04/01/2011 - "Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction?" 04/01/2011 - "An adult female with Jervell and Lange-Nielsen syndrome (JLNS; with KCNQ1 nonsense mutations p.Arg518X and p.Arg190AlafsX95 ) presented with multiple gastric carcinoid tumors and grossly elevated serum gastrin levels (943-1,570 pmol/L; normal 6-55 pmol/L) and absent acid secretion. " 06/01/2013 - "Iron-deficiency anaemia, gastric hyperplasia, and elevated gastrin levels due to potassium channel dysfunction in the Jervell and Lange-Nielsen Syndrome."
6.	DNA (Deoxyribonucleic Acid)IBA 01/01/2008 - "We have performed DNA sequencing of the LQTS-associated genes in 169 unrelated patients referred for genetic testing with respect to Romano Ward syndrome and in 13 unrelated patients referred for genetic testing with respect to Jervell and Lange-Nielsen syndrome. " 10/20/2005 - "For Romano-Ward syndrome and Jervell and Lange-Nielsen syndrome DNA based diagnostics are available. "
7.	Paroxysmal ventricular fibrillationIBA 01/01/1973 - "[Clinical and electrophysiological observations in syndrome of increased QT-time with paroxysmal ventricular fibrillation (Jervell and Lange-Nielsen syndrome)]." 08/01/2012 - "The spectrum of arrhythmogenic disease included catecholaminergic polymorphic ventricular tachycardia (n=13), Jervell and Lange-Nielsen syndrome (n=5), idiopathic ventricular fibrillation (n=4), left ventricular noncompaction (n=2), hypertrophic cardiomyopathy (n=1), ischemic cardiomyopathy (n=1), and arrhythmogenic right ventricular cardiomyopathy (n=1). "
8.	Timothy syndromeIBA 11/01/2009 - "The latter includes Jervell and Lange-Nielsen syndrome (JLNS), Andersen syndrome (AS), and Timothy syndrome (TS). " 01/01/2008 - "However, there are a few exceptions: patients with Timothy syndrome, patients with Jervell Lange-Nielsen syndrome carrying KCNQ1 mutations and LQT3 patients with 2:1 atrio-ventricular block and very early occurrence of cardiac arrhythmias."
9.	Polymorphic catecholergic ventricular tachycardiaIBA 07/01/2005 - "Recent genetic analyses have identified congenital diseases such as the long-QT syndrome (LQTS), the Jervell and Lange-Nielsen syndrome (JLNS), the Brugada syndrome (BrS), the short-QT syndrome (SQTS), the arrhythmogenic right ventricular cardiomyopathy type 2 (ARVC2), and the catecholamine-induced polymorphic ventricular tachycardia (CPVT) /familial polymorphic ventricular tachycardia (FPVT). " 08/01/2012 - "The spectrum of arrhythmogenic disease included catecholaminergic polymorphic ventricular tachycardia (n=13), Jervell and Lange-Nielsen syndrome (n=5), idiopathic ventricular fibrillation (n=4), left ventricular noncompaction (n=2), hypertrophic cardiomyopathy (n=1), ischemic cardiomyopathy (n=1), and arrhythmogenic right ventricular cardiomyopathy (n=1). "
10.	tranilast (N 5')IBA 08/01/2013 - "The syndromes identified were Waardenburg syndrome (n = 10), Usher syndrome (n = 9), Pendred syndrome (n = 7), Jervell and Lange-Nielsen syndrome (n = 5), CHARGE syndrome (n = 2), and 1 each of Stickler, CINCA (Chronic Infantile Neurological Cutaneous and Articular), Bartter, Down, and Donnai-Barrow syndromes. " 08/01/2012 - "The spectrum of arrhythmogenic disease included catecholaminergic polymorphic ventricular tachycardia (n=13), Jervell and Lange-Nielsen syndrome (n=5), idiopathic ventricular fibrillation (n=4), left ventricular noncompaction (n=2), hypertrophic cardiomyopathy (n=1), ischemic cardiomyopathy (n=1), and arrhythmogenic right ventricular cardiomyopathy (n=1). "

Therapies and Procedures

1.	Cochlear Implantation 08/01/2012 - "Cochlear implantation in children with Jervell and Lange-Nielsen syndrome - a cautionary tale." 06/01/2010 - "Cochlear implantation in Jervell & Lange-Nielsen syndrome: a cautionary report." 11/01/2008 - "Cochlear implantation in patients with Jervell and Lange-Nielsen syndrome, and a review of literature." 04/01/2008 - "Jervell and Lange-Nielsen syndrome in Norwegian children: aspects around cochlear implantation, hearing, and balance." 03/01/2008 - "The collected data show that cochlear implantation can be relatively safely performed in patients with Jervell, Lange-Nielsen syndrome and that these children received significant benefit from cochlear implantation."
2.	Anesthesia 12/01/2015 - "Anesthesia management of a patient with Jervell and Lange-Nielsen syndrome." 10/01/2015 - "A child with Jervell and Lange-Nielsen syndrome for permanent pacemaker implantation and sympathectomy: Anesthesia management and considerations." 01/01/2015 - "Safe anesthesia management protocol of a child with congenital long QT syndrome and deafness (Jervell and lange-nielsen syndrome) for cochlear implant surgery."
3.	Defibrillators (Defibrillator) 02/01/2013 - "Defibrillators in Jervell-Lange Nielsen syndrome."
4.	Sympathectomy (Sympathectomies) 10/01/2015 - "A child with Jervell and Lange-Nielsen syndrome for permanent pacemaker implantation and sympathectomy: Anesthesia management and considerations."
5.	Cochlear Implants (Cochlear Implant) 01/01/2015 - "Safe anesthesia management protocol of a child with congenital long QT syndrome and deafness (Jervell and lange-nielsen syndrome) for cochlear implant surgery."