Timothy Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 18 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Modeling ventricular tachycardia in genetic long QT syndrome using engineered cardiac tissues.
Zhuang Richard Z et al. — Bioactive materials (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42164997/
- 2.
Multimodal clinical phenotyping of CACNA1C p.(Arg518His) variant as a cause of cardiac-only Timothy syndrome
Andrea Villatore et al. — Journal of Cardiology Cases (1 August 2026)
https://doi.org/10.1016/j.jccase.2026.08.002
- 3.
Phosphorylation of CaV1.2 provides insight into a mechanism of LQT8
C M JOHNSON — Zenodo (CERN European Organization for Nuclear Research) (27 July 2026)
https://doi.org/10.5281/zenodo.21631104
- 4.
Phosphorylation of CaV1.2 provides insight into a mechanism of LQT8
C M JOHNSON — Zenodo (CERN European Organization for Nuclear Research) (27 July 2026)
https://doi.org/10.5281/zenodo.21631105
- 5.
Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus statement.
Underwood Jack F G et al. — European journal of human genetics : EJHG (9 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42426153/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Timothy Syndrome
Timothy syndrome is a very rare genetic condition caused by changes in the CACNA1C gene, which affects how calcium moves in and out of cells. It causes a dangerous heart rhythm problem known as long QT syndrome, and often webbed fingers or toes, along with developmental and learning differences. Care involves close heart monitoring, medicines such as beta blockers, and sometimes an implanted defibrillator, with support from a team of specialists.
Most Recent Research
Congenital long QT syndrome (LQTS) predisposes patients to malignant ventricular tachycardias, yet existing in vitro models do not fully capture the clinical arrhythmic phenotypes that determine patient outcomes. We report the development of an engineered platform with mature, fully hiPSC-derived human cardiac tissues that reproduces genotype-specific ventricular tachycardia under physiologically relevant triggers. Using patient-derived and corrected hiPSCs, we engineered electromechanically matured cardiac tissues to model LQT8 and LQT2 syndromes. LQT8 tissues exhibited spontaneous early afterdepolarizations and sustained tachycardia, including monomorphic, polymorphic, and torsades de pointes-like waveforms. In contrast, LQT2 tissues remained stable under constant pacing but developed arrhythmias during dynamic rate acceleration, mirroring clinical trigger-dependent arrhythmogenicity. Frequency-domain analysis and activation mapping revealed re-entrant dynamics consistent with ventricular tachycardia-like activity. By unifying cellular-level electrophysiology with tissue-scale ECG-like arrhythmic activity, this platform enables physiologically inspired investigation of arrhythmogenic mechanisms in inherited arrhythmia syndromes.
Common Questions
What is Timothy Syndrome?
Timothy syndrome is a very rare genetic condition caused by changes in the CACNA1C gene, which affects how calcium moves in and out of cells. It causes a dangerous heart rhythm problem known as long QT syndrome, and often webbed fingers or toes, along with developmental and learning differences. Care involves close heart monitoring, medicines such as beta blockers, and sometimes an implanted defibrillator, with support from a team of specialists.
How many clinical trials are available for Timothy Syndrome?
RareWays currently indexes 2 clinical trials for Timothy Syndrome. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Timothy Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.