Timothy syndrome
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Timothy syndrome is a rare disorder that primarily affects the heart but can affect many other areas of the body. The severity of this condition varies among affected individuals, although it is often life-threatening.
Descrizione
Timothy syndrome is a rare disorder that primarily affects the heart but can affect many other areas of the body. The severity of this condition varies among affected individuals, although it is often life-threatening.
Timothy syndrome is characterised by a heart condition called long QT syndrome, which causes the heart (cardiac) muscle to take longer than usual to recharge between beats. This abnormality in the heart's electrical system can cause severe abnormalities of the heart rhythm (arrhythmias), which can lead to sudden death. Some people with Timothy syndrome are also born with structural heart defects (cardiomyopathy) that affect the heart's ability to pump blood effectively.
As a result of these serious heart problems, some people with Timothy syndrome live only into childhood. In about 80 percent of cases of Timothy syndrome, the cause of death is a severe form of arrhythmia called ventricular tachycardia, in which the lower chambers of the heart (the ventricles) beat abnormally fast, often leading to cardiac arrest (the heart suddenly stops beating) and sudden death.
Timothy syndrome is also characterised by webbing or fusion of the skin between some fingers or toes (cutaneous syndactyly). About half of affected people have distinctive facial features such as a flattened nasal bridge, low-set ears, a small upper jaw, and a thin upper lip. Children with this condition have small, misplaced teeth and frequent cavities (dental caries). Additional signs and symptoms of Timothy syndrome can include baldness at birth, low muscle tone (hypotonia), frequent infections, episodes of low blood glucose (hypoglycemia), and an abnormally low body temperature (hypothermia). The respiratory system and gastrointestinal tract can also be affected.
Neuropsychiatric features are also common in individuals with Timothy syndrome. Researchers have found that many children with Timothy syndrome have the characteristic features of autism spectrum disorders. Affected children tend to have impaired communication and socialization skills, as well as delayed development of speech and language. Poor coordination is also frequent in affected individuals. Other nervous system disorders that can occur in Timothy syndrome include attention-deficit/hyperactivity disorder, intellectual disability and recurrent seizures (epilepsy); some affected individuals have photosensitive epilepsy, in which seizures are triggered by flashing lights.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
Long QT syndrome with syndactyly
LQT8
TS
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Ulteriori letture e riferimenti
- Timothy syndrome; MedlinePlus, National Library of Medicine.
- Bauer R, Timothy KW, Golden A. Update on the Molecular Genetics of Timothy Syndrome. Front Pediatr. 2021 May 17;9:668546. doi: 10.3389/fped.2021.668546. eCollection 2021.
- Herold KG, Hussey JW, Dick IE. CACNA1C-Related Channelopathies. Handb Exp Pharmacol. 2023;279:159-181. doi: 10.1007/164_2022_624.
- Levy RJ, Timothy KW, Underwood JFG, Hall J, Bernstein JA, Pasca SP. A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder. Pediatr Neurol. 2023 Jan;138:101-106. doi: 10.1016/j.pediatrneurol.2022.10.013. Epub 2022 Nov 2.
- Marks ML, Trippel DL, Keating MT. Long QT syndrome associated with syndactyly identified in females. Am J Cardiol. 1995 Oct 1;76(10):744-5. doi: 10.1016/s0002-9149(99)80216-1.
- Marks ML, Whisler SL, Clericuzio C, Keating M. A new form of long QT syndrome associated with syndactyly. J Am Coll Cardiol. 1995 Jan;25(1):59-64. doi: 10.1016/0735-1097(94)00318-k.
- Napolitano C, Priori SG. CACNA1C-Related Disorders. 2006 Feb 15 [updated 2025 Sep 18]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1403/
- Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A. 2005 Jun 7;102(23):8089-96; discussion 8086-8. doi: 10.1073/pnas.0502506102. Epub 2005 Apr 29.
- Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager-Flusberg H, Priori SG, Sanguinetti MC, Keating MT. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004 Oct 1;119(1):19-31. doi: 10.1016/j.cell.2004.09.011.
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