Heart failure & cardiomyopathies
External validation of the desmoplakin (DSP)-risk score for prediction of clinically significant ventricular arrhythmias in primary prevention patients with desmoplakin cardiomyopathy–associated genetic variants
- external validation of this prediction model in a new large, international, multicenter cohort
Authors' conclusion
In a large independent cohort of DSP patients, this study showed external validity of the DSP-risk score. These findings support the use of the DSP-risk score to facilitate shared decision making regarding implantable cardioverter-defibrillator implantation in the primary prevention of VAs in patients harboring DSP P/LP variants.
Study context
- Population
- Patients with a P/LP pathogenic DSP variant enrolled in the Desmoplakin Specific Effort for a Rare Disease Outcome Study Network with no sustained VA before or at first assessment, not used for development of the DSP-risk scoreDSP patients from 30 centers, 18.4% with previous myocarditis-like episode
- Participants
- 450 patients
- Comparison
- DSP-risk score prediction of sustained ventricular arrhythmias (VAs), assessed by c-statistic overall and by history of myocarditis-like episodes
Performance
As reported in the abstract
Sustained VAs · median of 4.3 years (1.6-10.0)
- Over a median follow-up of 4.3 years (1.6-10.0), 60 sustained VAs were observed
Further findings
C-statistic
| Outcome | with previous myocarditis-like episodes | without previous myocarditis-like episodes |
|---|---|---|
| Discrimination of the DSP-risk score (c-statistic) | 0.719 (95% CI 0.702–0.737) | 0.749 (95% CI 0.740–0.759) |
- Discrimination of the DSP-risk score (c-statistic): overall c-statistic 0.719 (95% CI 0.706–0.733)
Original publication
External validation of the DSP-risk score for prediction of clinically significant ventricular arrhythmias in primary prevention patients with desmoplakin cardiomyopathy–associated genetic variants. Heart Rhythm. Published 27 April 2026. doi:10.1016/j.hrthm.2026.04.038
Summarised from the published abstract; every number is checked against it