Heart failure & cardiomyopathiesCohort study
Clinical features and outcomes in carriers of pathogenic desmoplakin variants
- Cohort study
- multicentre
- 26 academic institutions across nine countries
Authors' conclusion
Patients with P/LP DSP variants experience high rates of sustained VA and HF hospitalizations.
Study context
- Population
- Patients with pathogenic/likely pathogenic (P/LP) desmoplakin (DSP) variants in the worldwide DSP-ERADOS Network47.5% probands
- Participants
- 800 patients
- Outcome
- Sustained VA and HF hospitalizations during follow-up
- Follow-up
- 3.7 [1.4-7.1] years
Main finding
As reported in the abstract
Sustained VA
139 (17.4%, 3.9%/year)
Heart failure (HF) episodes
72 (9.0%, 1.8%/year)
Observational data: associations, not effects.
Further findings
| Outcome | Estimate | P value |
|---|---|---|
| Predictors of sustained VA (multivariable) — Female sex | aHR 1.547 | P = 0.025 |
| Predictors of sustained VA (multivariable) — Prior non-sustained ventricular tachycardia | aHR 1.721 | P = 0.009 |
| Predictors of sustained VA (multivariable) — Prior sustained VA | aHR 1.923 | P = 0.006 |
| Predictors of sustained VA (multivariable) — LVEF ≤ 50% | aHR 1.645 | P = 0.032 |
| Predictors of HF (multivariable) — T-wave inversion in 3+ electrocardiogram leads | aHR 2.036 | P = 0.007 |
| Predictors of HF (multivariable) — LVEF ≤ 50% | aHR 3.879 | P < 0.001 |
| Myocardial injury episode (at presentation or during follow-up) — Myocardial injury episode · VA thereafter | HR 2.394 | P < 0.001 |
| Myocardial injury episode (at presentation or during follow-up) — Myocardial injury episode · HF thereafter | HR 5.064 | P < 0.001 |
- Myocardial injury episode (at presentation or during follow-up) — Patients with a myocardial injury episode
- 70 (8.8%)
VA incidence in individuals not fulfilling arrhythmogenic right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM) or non-dilated left ventricular cardiomyopathy (NDLVC) criteria (32.5%)
- VA incidence
- 0.5%/year
Original publication
Clinical features and outcomes in carriers of pathogenic desmoplakin variants. Eur Heart J. Published 17 September 2024. doi:10.1093/eurheartj/ehae571
Summarised from the published abstract; every number is checked against it