Heart failure & cardiomyopathies
Clinical Effect of Genetic Testing in Inherited Cardiovascular Diseases: A 14-Year Retrospective Study
Authors' conclusion
Genetic testing in a clinical context identified a disease-causing variant in 24% of probands, thus highlighting the high yield of rare variant genetic testing.
Study context
- Population
- Probands with suspected heritable cardiomyopathies or arrhythmias, Montreal Heart Institute Cardiovascular Genetics Centre (Canada)mean age 47 ± 17 years
- Participants
- 2,062 probands
- Outcome
- Clinical utility of arrhythmia and cardiomyopathy genetic testing
Methodological detailssingle-centre, consecutive probands
- Single-centre
- Consecutive probands
Main finding
As reported in the abstract
P/LP variant identified
496
24%
Diagnostic refinement with potential impact on clinical management
168
8%
Observational data: associations, not effects.
Further findings
Variant reclassification using local population cohort (case control enrichment)
- Variants with changed classification
- 9
Original publication
Clinical Effect of Genetic Testing in Inherited Cardiovascular Diseases: A 14-Year Retrospective Study. J Am Coll Cardiol. Published 18 March 2025. doi:10.
Summarised from the published abstract; every number is checked against it