Long QT syndrome 8

Common Name(s)

Long QT syndrome 8, Timothy syndrome

Timothy syndrome is a type of long QT syndrome. It affects many parts of the body including the heart, fingers, toes, face, and the nervous system. It is characterized by long QT syndrome, although some people with Timothy syndrome also have other heart defects that affect the heartÕs ability to pump blood effectively. Other symptoms of Timothy syndrome include fusion of the skin between fingers or toes and distinctive facial features. In addition, many children with this syndrome have developmental delay and characteristic features of autism. Mental retardation and seizures can also occur in children with Timothy syndrome.

There are two forms of Timothy syndrome. Type 1 includes all of the characteristic features described. Type 2 causes a more severe form of long QT syndrome and does not appear to cause fusion of skin between fingers or toes. All cases of Timothy syndrome appear to be due to changes in the CACNA1C gene. This syndrome is inherited in an autosomal dominant manner. However, most cases are not inherited from an affected parent, but occur for the first time in a family due to a spontaneous or random change in the CACNA1C gene.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Long QT syndrome 8" 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: 29 Apr 2014

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Long QT syndrome 8" 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: 29 Apr 2014

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General Support Organizations

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General Resources

Drugs to Avoid List

Listing of drugs to avoid if you have Long QT Syndrome

Updated 29 Apr 2014

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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 "Long QT syndrome 8" returned 1 free, full-text research articles on human participants. First 3 results:

A rare association of long QT syndrome and syndactyly: Timothy syndrome (LQT 8).
 

Author(s): U Krause, V Gravenhorst, T Kriebel, W Ruschewski, T Paul

Journal: Clin Res Cardiol. 2011 Dec;100(12):1123-7.

 

Last Updated: 23 Nov 2011

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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 "Long QT syndrome 8" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.