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Long QT syndrome 8
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Overview
Timothy syndrome is a type of long QT syndrome. It affects many parts of the body including the heart, fingers, toes, face, and the nervous system. It is characterized by long QT syndrome, although some people with Timothy syndrome also have other heart defects that affect the heart’s ability to pump blood effectively.[1][2] Other symptoms of Timothy syndrome include fusion of the skin between fingers or toes and distinctive facial features. In addition, many children with this syndrome have developmental delay and characteristic features of autism. Mental retardation and seizures can also occur in children with Timothy syndrome.[1][2]
There are two forms of Timothy syndrome. Type 1 includes all of the characteristic features described. Type 2 causes a more severe form of long QT syndrome and does not appear to cause fusion of skin between fingers or toes. All cases of Timothy syndrome appear to be due to changes in the CACNA1C gene. This syndrome is inherited in an autosomal dominant manner. However, most cases are not inherited from an affected parent, but occur for the first time in a family due to a spontaneous or random change in the CACNA1C gene.[1][2]
There are two forms of Timothy syndrome. Type 1 includes all of the characteristic features described. Type 2 causes a more severe form of long QT syndrome and does not appear to cause fusion of skin between fingers or toes. All cases of Timothy syndrome appear to be due to changes in the CACNA1C gene. This syndrome is inherited in an autosomal dominant manner. However, most cases are not inherited from an affected parent, but occur for the first time in a family due to a spontaneous or random change in the CACNA1C gene.[1][2]
References
- Timothy Syndrome. Genetic Home Reference. http://ghr.nlm.nih.gov/condition=timothysyndrome . Accessed December 17, 2008.
- Splawski I, Timothy KW, Priori SG, Napolitano C, Bloise R . Timothy syndrome. GeneReviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=timothy. Accessed December 17, 2008.
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General Information
- Genetics Home Reference (GHR) contains information on Long QT syndrome 8. Click on the link to go to GHR and review the information.
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- PubMed is a searchable database of medical literature and lists journal articles that discuss Long QT syndrome 8. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Long QT syndrome 8. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT. Proceedings of the National Academy of Sciences of the United States of America; 2005 Jun 7;102(23):8089-96.
Videos/Presentations
- Identification and Treatment of Sudden Death Conditions in Young Patients. A presentation by David Bradley, M.D., Director, Pediatric Heart Rhythm Service, CS Mott Children's Hospital. Assoicate Professor, Department of Pediatrics and Communicable Diseases, University of Michigan.