Laminopathies: natural history and risk prediction of heart failure - PubMed
5 days ago
- #Heart Failure
- #Risk Prediction
- #Laminopathies
- Laminopathies involve LMNA gene variants leading to high risk of dilated cardiomyopathy and heart failure (HF).
- A prediction model for severe HF events was developed using data from 470 patients in a French registry and validated with 245 international patients.
- Primary endpoint (HF-MACE) included HF hospitalization, HF-related death, mechanical circulatory support, or heart transplantation.
- Four independent predictors of HF-MACE were identified: male sex, LVEF <50%, missense variants in head/rod domains, and complete left bundle branch block.
- The model's C-index was 0.750 (derivation cohort) and 0.758 (validation cohort), showing good predictive accuracy.
- 5-year HF-MACE incidence varied: 1.5% (0 risk factors), 5.0% (1 risk factor), and 22.0% (≥2 risk factors).
- Patients with baseline LVEF <30% had a 50% 1-year HF-MACE incidence and were excluded from the risk score.
- The study aims to enable early and optimal preventive management for laminopathy patients.