Heart failure & cardiomyopathiesCohort study
Age-Related Penetrance of Phospholamban p.Arg14del Cardiomyopathy
- Retrospective cohort study
Authors' conclusion
Penetrance of a major cardiac event is high in PLN p.(Arg14del) carriers, with a penetrance up to 70% at age 70. Penetrance of a cardiac risk factor is nearly complete at older age. Furthermore, cardiac phenotypes can emerge from adolescence to senior age.
Study context
- Population
- Carriers of the pathogenic phospholamban (PLN) p.(Arg14del) variant
- Participants
- 868 carriers
- Outcome
- Cardiac penetrance (major event: malignant ventricular arrhythmias or symptomatic HF; or risk factor: low-voltage ECG, repolarization abnormalities, frequent premature complexes, LVEF <45% or cardiac fibrosis on MRI)
Main finding
As reported in the abstract
Penetrance of a major event at age 70
43% to 70%
Penetrance of a risk factor at age 70
84% to 100%
Carriers with a major event
207 (23.8%)
Mean age at major event
51 (± 15) years
Observational data: associations, not effects.
Original publication
Age-Related Penetrance of Phospholamban p.Arg14del Cardiomyopathy. Eur J Heart Fail. Published 22 April 2025. doi:10.1002/ejhf.3672
Summarised from the published abstract; every number is checked against it