Timothy Syndrome

It is feasible that the major title of the report Timothy Syndrome is not the name you expected.

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General Discussion
Timothy syndrome (TS) is an unusual congenital disease defined by a spectrum of problems that consist of an abnormally extended heart “repolarization” time (lengthy QT interval). This refers to the procedure of returning heart cells to a relaxing state in preparation for the following heart beat. The extended repolarization time predisposes individuals to abnormal heart rhythms (arrhythmias), cardiac arrest and premature death. Other issues included in the TS range are webbing of fingers and/or toes (syndactyly); structural heart abnormalities present at birth (genetic); a damaged immune system; developmental delays and autism. Timothy syndrome was determined in 2004 by researchers at Children’s Health center Boston, Howard Hughes Medical Institute, University of Utah and University of Pavia, Pavia, Italy.

Regardless of the intricacy of health concerns, this syndrome occurs from a single, spontaneous mutation in the Ca(v)1.2 Calcium Stations gene called CACNA1C. Numerous body systems are affected by this mutation because of impairment of an extremely fundamental cell ion channel, located in many tissues and also body organs, which manages the amount of calcium getting in a cell. As a result of this anomaly, the ion stations gating closure is impacted and cells are bewildered by a constant increase of calcium. The affected genetics is energetic (shared) in heart muscle mass cells as well as cells of the intestinal system, lungs, body immune system, smooth muscle, testes, and human brain, including regions of the mind that are related to abnormalities noted in autism.

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