Jervell Lange-Nielsen syndrome

Common Name(s)

Jervell Lange-Nielsen syndrome

Jervell Lange-Nielsen syndrome is a form of long QT syndrome. Symptoms include deafness from birth, arrhythmia, fainting, and sudden death. There are two different types, Jervell Lange-Nielsen syndrome type 1 and 2. It is inherited in an autosomal recessive fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Jervell Lange-Nielsen syndrome" for support, advocacy or research.

SADS (Sudden Arrhythmia Death Syndromes) Foundation

Our mission is to save the lives of young people who are genetically predisposed to sudden death due to cardiac arrhythmia and to provide education and support to families and the medical community.

Last Updated: 23 Apr 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Jervell Lange-Nielsen syndrome" for support, advocacy or research.

SADS (Sudden Arrhythmia Death Syndromes) Foundation

Our mission is to save the lives of young people who are genetically predisposed to sudden death due to cardiac arrhythmia and to provide education and support to families and the medical community.

http://www.StopSADS.org

Last Updated: 23 Apr 2015

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General Support Organizations

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General Resources

SADS Foundation Website

Information on living with SADS, diagnosis, treatment, prevention, and advocacy/education.

Updated 29 Apr 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Jervell Lange-Nielsen syndrome" returned 24 free, full-text research articles on human participants. First 3 results:

Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene.
 

Author(s): Esra Kılıç, İlker Ertuğrul, Sema Özer, Mehmet Alikaşifoğlu, Dilek Aktaş, Koray Boduroğlu, Gülen Eda Ütine

Journal: Turk. J. Pediatr.. ;56(5):542-5.

 

Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive cardioauditory ion channel disorder characterized by congenital bilateral sensorineural deafness and long QT interval. JLNS is a ventricular repolarization abnormality and is caused by mutations in the KCNQ1 or KCNE1 ...

Last Updated: 29 May 2015

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Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue.
 

Author(s): Miao Zhang, Cristina D'Aniello, Arie O Verkerk, Eva Wrobel, Stefan Frank, Dorien Ward-van Oostwaard, Ilaria Piccini, Christian Freund, Jyoti Rao, Guiscard Seebohm, Douwe E Atsma, Eric Schulze-Bahr, Christine L Mummery, Boris Greber, Milena Bellin

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Dec;111(50):E5383-92.

 

Jervell and Lange-Nielsen syndrome (JLNS) is one of the most severe life-threatening cardiac arrhythmias. Patients display delayed cardiac repolarization, associated high risk of sudden death due to ventricular tachycardia, and congenital bilateral deafness. In contrast to the autosomal ...

Last Updated: 17 Dec 2014

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Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome.
 

Author(s): Ji Yeon Sung, Eun Jung Bae, Seungman Park, So Yeon Kim, Ye Jin Hyun, Sung Sup Park, Moon-Woo Seong

Journal: Ann Lab Med. 2014 Sep;34(5):395-8.

 

Long QT syndrome (LQTS) is a genetically heterogeneous disorder associated with sequence variations in more than 10 genes; in some cases, it is caused by large deletions or duplications among the main, known LQTS-associated genes. Here, we describe a 14-month-old Korean boy with congenital ...

Last Updated: 4 Sep 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Jervell Lange-Nielsen syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes
 

Status: Not yet recruiting

Condition Summary: Prolonged QT Interval in EKG and Sudden Death

 

Last Updated: 23 May 2016

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