Heart failure & cardiomyopathiesCohort study
Identification of concealed cardiomyopathy using next-generation sequencing–based genetic testing in Korean patients initially diagnosed with idiopathic ventricular fibrillation
- Registry-based cohort study
- multicentre
Authors' conclusion
Next-generation sequencing-based genetic testing identified pathogenic or likely pathogenic variants in 5.4% of patients initially diagnosed with IVF, suggesting that genetic testing with definite evidence genes of cardiomyopathy may enable molecular diagnosis in a minority of patients with IVF.
Study context
- Population
- Patients clinically diagnosed with idiopathic VF, inherited arrhythmia syndrome registry, South Korea, 2014–201774 underwent genetic testing
- Participants
- 96 participants
- Outcome
- Clinical yield of NGS-based genetic testing (174 CV disease genes): pathogenic or likely pathogenic variants
Main finding
As reported in the abstract
Pathogenic or likely pathogenic variants on NGS-based genetic testing
Idiopathic ventricular fibrillation (IVF) probands
5.4%
4 events
Observational data: associations, not effects.
Further findings
Gene location of pathogenic or likely pathogenic variants
- All located in genes with definite evidence of a cardiomyopathy phenotype (hypertrophic cardiomyopathy or arrhythmogenic RV cardiomyopathy)
Original publication
Identification of concealed cardiomyopathy using next-generation sequencing–based genetic testing in Korean patients initially diagnosed with idiopathic ventricular fibrillation. Europace. Published 10 November 2023. doi:10.1093/europace/euad313
Summarised from the published abstract; every number is checked against it