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International Cohort of Neonatal Timothy Syndrome
Alexandra Matthews1, Katherine Timothy2, Andy Golden3
1Department of Paediatric Cardiology, Bristol Royal Hospital for Children, London, UK.
Neonatology
|January 11, 2024
Summary
Timothy syndrome (TS) is a rare disorder with high early mortality. Early diagnosis in neonates with long QT and syndactyly is crucial for intervention to prevent fatal arrhythmias.
Area of Science:
- Genetics and rare diseases
- Pediatric cardiology
- Neonatology
Background:
- Timothy syndrome (TS) is a rare multisystem disorder characterized by long QT interval, syndactyly, arrhythmias, and hypoglycemia.
- Neonatal diagnosis is critical for timely intervention to prevent sudden cardiac death.
Purpose of the Study:
- To describe the clinical characteristics and outcomes of patients with type I Timothy syndrome (TS1).
- To highlight the importance of early diagnosis and intervention in TS1.
Main Methods:
- Retrospective case series of 44 TS1 patients with a confirmed CACNA1C G406R variant.
- Data collected over 28 years from the Timothy Syndrome Foundation's international registry.
Main Results:
- High incidence of prematurity (43%) and fetal bradycardia (45%) in TS1 patients.
- Syndactyly present in 91% of cases; long QT at birth aided diagnosis in 57%.
- High early mortality observed, with 20 patients dying by an average age of 2.3 years.
Conclusions:
- Timothy syndrome is associated with significant early mortality.
- Consider TS in pediatric patients with long QT and syndactyly.
- Neonatal recognition of TS enables early intervention to prevent life-threatening arrhythmias.
