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Timothy Syndrome

Abstract

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NORD is very grateful to Katherine W. Timothy of Children's Hospital, Harvard Medical School, for assistance in the preparation of this report.

Synonyms of Timothy Syndrome

  • No synonyms found.

Disorder Subdivisions

  • No subdivisions 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.

Timothy Syndrome Resources

Organizations:

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