Timothy Syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Timothy Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Timothy syndrome (TS) is a rare genetic disorder characterized by a spectrum of problems that include an abnormally prolonged cardiac "repolarization" time (long QT interval). This refers to the process of returning heart cells to a resting state in preparation for the next heartbeat. The prolonged repolarization time predisposes individuals to abnormal heart rhythms (arrhythmias), cardiac arrest and sudden death. Other problems included in the TS spectrum are webbing of fingers and/or toes (syndactyly); structural heart abnormalities present at birth (congenital); a weakened immune system; developmental delays and autism. Timothy syndrome was identified in 2004 by researchers at Children's Hospital Boston, Howard Hughes Medical Institute, University of Utah and University of Pavia, Pavia, Italy.

Despite the complexity of health concerns, this syndrome arises from a single, spontaneous mutation in the Ca(v)1.2 Calcium Channel gene called CACNA1C. Multiple body systems are affected by this mutation due to impairment of a very fundamental cell ion channel, found in most tissues and organs, which controls the amount of calcium entering a cell. As a result of this mutation, the ion channel gating closure is affected and cells are overwhelmed by a continuous influx of calcium. The affected gene is active (expressed) in cardiac muscle cells as well as tissues of the gastrointestinal system, lungs, immune system, smooth muscle, testes, and brain, including regions of the brain that are associated with abnormalities observed in autism.

Supporting Organizations

American Heart Association

7272 Greenville Avenue
Dallas, TX 75231
Tel: (214)784-7212
Fax: (214)784-1307
Tel: (800)242-8721
Email: Review.personal.info@heart.org
Website: http://www.heart.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

NIH/National Heart, Lung and Blood Institute

P.O. Box 30105
Bethesda, MD 20892-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov
Website: http://www.nhlbi.nih.gov/

Sudden Arrhythmia Death Syndromes Foundation

508 E. South Temple
Suite 202
Salt Lake City, UT 84102
Tel: (801)531-0937
Fax: (801)531-0945
Tel: (800)786-7723
Email: laura@sads.org
Website: http://www.sads.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  3/11/2008
Copyright  2005 National Organization for Rare Disorders, Inc.