National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Timothy Syndrome is not the name you expected.
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.
American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
Sudden Arrhythmia Death Syndromes Foundation
508 E South Temple #20
Salt Lake City, UT 84102
NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
HOPE (The Heart of Pediatric Electrophysiology)
PO Box 519
Park Ridge, NJ 07565
Email: firstname.lastname@example.org, email@example.com
For a Complete Report
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