Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link
Authors' conclusion
In addition to a high prevalence of CHD, evolving data reveal early-onset atrial tachyarrhythmias in young KS patients, including AF, even in the absence of structural heart disease.
Study context
- Population
- Patients with Kleefstra syndrome (EHMT1 haploinsufficiency)
- Participants
- 3 / 50 / 163
- Exposure
- Case series vs Radboudumc vs GenIDA
- Case seriesn = 3
- Radboudumcn = 50
- GenIDAn = 163
- Outcome
- Prevalence of arrhythmias and CHD subtypes
Methodological detailstwo registries, US case series
- Two registries
- US case series
Main finding
As reported in the abstract
Arrhythmias without CHD
| Group | Value | Atrial fibrillation (AF) | Supraventricular tachycardia | Non-sustained VT | Chronic ectopic atrial tachycardia |
|---|---|---|---|---|---|
| Radboudumc | 8% | 1 | 2 | 1 | |
| GenIDA | 1 | 1 |
Value
Radboudumc8%
GenIDANot reported in the abstract
Atrial fibrillation (AF)
Radboudumc1
GenIDA1
Supraventricular tachycardia
Radboudumc2
GenIDANot reported in the abstract
Non-sustained VT
Radboudumc1
GenIDANot reported in the abstract
Chronic ectopic atrial tachycardia
RadboudumcNot reported in the abstract
GenIDA1
- Prevalence of CV abnormalities (majority congenital heart disease (CHD)) in both registries
- 40%
- Atrial tachyarrhythmias in young kleefstra syndrome (KS) patients, total (≥4 without structural heart disease)
- 6/213 or 3%
Observational data: associations, not effects.
Further findings
Median, years
| Outcome | Case series | Radboudumc | GenIDA | |
|---|---|---|---|---|
| Age in registries | Not reported in the abstract | 13.5 (IQR 13) | 10 (IQR 12) | Case series: not reported in the abstract |
Original publication
Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link. Europace. Published 9 January 2024. doi:10.
Summarised from the published abstract; every number is checked against it