Arrhythmias & electrophysiology
Rare Genetic Variants in Young Adults Requiring Pacemaker Implantation
Main finding · Rare protein-altering variants in 39 prioritized genesResult — go to the resultOdds ratio 2.39 95% CI 1.75–3.33Authors' conclusion
Unrecognized rare genetic variants increase the risk of CCD in young adults with CCD of unknown etiology.
Study context
- Population
- Young adults (pacemaker at age ≤60 years) with CCD of unknown etiology, 14 Spanish hospitals
- Participants
- 150 vs 115,522
- Comparison
- Young adults with CCD requiring pacemaker vs gnomAD reference population
- CCDn = 150
- Controln = 115,522reference
- Outcome
- Diagnostic yield of genetic testing; prevalence of rare protein-altering variants across 39 prioritized genes
Methodological detailsmulticentre, whole exome sequencing
- Multicentre
- Whole exome sequencing
Main finding
As reported in the abstract
Rare protein-altering variants in 39 prioritized genes
Odds ratio
2.39
95% CI 1.75–3.33
CCDvs Control
OR 2.39 (95% CI 1.75–3.33)
- Actionable genetic variant detected
- 21 patients (14%)
- LMNA most frequently involved gene
- 4.6%
Observational data: associations, not effects.
Further findings
| Outcome | OR (95% CI) | |
|---|---|---|
| Rare variants in nuclear envelope genesStrongest association with CCD | 6.77 (3.71–13.87) | |
| 0.050.21520Odds ratio (log scale) |
Rare variants by functional gene group
- Significant enrichment in CCD in all functional gene groups except desmosomal genes
Parts of this Brief are withheld: the automatic checks could not confirm them against the abstract.
Original publication
Rare Genetic Variants in Young Adults Requiring Pacemaker Implantation. JACC Clin Electrophysiol. Published 10 July 2024. doi:10.
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