Diseases & Conditions


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Timothy Syndrome


Synonyms of Timothy Syndrome
  • No synonyms found

Disorder Subdivisions

  • No synonyms found


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.

Organizations related to Timothy Syndrome
  • American Heart Association
    National Center
    Dallas TX 75231-4596
    Phone #: 214-373-6300
    800 #: 800-242-8721
    e-mail: inquire@heart.org
    Home page: http://www.americanheart.org
  • HOPE (The Heart of Pediatric Electrophysiology)
    PO Box 519
    Park Ridge NJ 07565
    Phone #: 201-505-9383
    800 #: 877-394-4673
    e-mail: info@heartbeatsofhope.org, info@timothysyndrome.org
    Home page: http://www.heartbeatsofhope.org;
  • NIH/National Heart, Lung and Blood Institute Information Center
    P.O. Box 30105
    Bethesda MD 20824-0105
    Phone #: 301-592-8573
    800 #: --
    e-mail: nhlbiinfo@rover.nhlbi.nih.gov
    Home page: N/A
  • Sudden Arrhythmia Death Syndromes Foundation
    508 E South Temple #20
    Salt Lake City UT 84102
    Phone #: 801-531-0937
    800 #: 800-786-7723
    e-mail: sads@sads.org
    Home page: http://www.sads.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html