Heart failure & cardiomyopathies
Association of Multiple Nonhypertrophic Cardiomyopathy–Related Genetic Variants and Outcomes in Patients With Hypertrophic Cardiomyopathy
Authors' conclusion
Approximately 8% of sarcomeric HCM patients carried other CVD-related variants, which were associated with progression to end-stage HCM and heart failure events.
Study context
- Population
- Hypertrophic cardiomyopathy (HCM) patients with P/LP sarcomeric variants, Japanese multicentre cohort139 with sarcomeric variants
- Participants
- 394 patients
- Exposure
- Multiple sarcomeric variants or coexisting other cardiovascular disease (CVD)-related variants vs single sarcomeric variant
- Other CVD-related variantsn = 11
- Multiple sarcomeric variantsn = 6
- Single sarcomeric variantsn = 122reference
- Outcome
- Progression to end-stage HCM
Methodological detailsmultivariable Cox regression
- Multivariable Cox regression
Main finding
As reported in the abstract
Each group vs single sarcomeric variantsAdjusted hazard ratio (95% CI)P value
Multiple sarcomeric variants
3.35(1.25–8.95)
P = 0.016Other CVD-related variants
2.80(1.16–6.78)
P = 0.022Observational data: associations, not effects.
Further findings
| Outcome | aHR (95% CI) | P value | |
|---|---|---|---|
| HF eventsOther CVD-related variantsvs Single sarcomeric variants | 2.75 (1.27–5.94) | P = 0.010 | |
| 0.20.5125Adjusted hazard ratio (log scale) |
Original publication
Association of Multiple Nonhypertrophic Cardiomyopathy–Related Genetic Variants and Outcomes in Patients With Hypertrophic Cardiomyopathy. JACC Heart Fail. Published 25 September 2024. doi:10.
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