Why the study?
Incomplete penetrance and clinical heterogeneity are common in PLN R14del mutation-related heart failure, but the molecular mechanisms underlying variable disease expression remain poorly understood.
Does plasma proteomics stratification identify phospholamban R14del carriers at risk for disease progression?
Population
88 PLN R14del carriers across the disease spectrum
Comparison
Unsupervised plasma proteomics clustering integrated with metabolomics and lipidomics
Design
Cohort study
Key result
Molecular profiling identified asymptomatic PLN R14del carriers at higher risk for disease progression, with cluster 1 showing elevated markers of cardiac damage.
Authors
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May warrant closer monitoring for high-risk asymptomatic PLN R14del carriers; extends plasma proteomics utility but remains hypothesis-generating pending validation.
Does plasma proteomics stratification identify phospholamban R14del carriers at risk for disease progression?
Plasma multi-omics profiling can stratify phospholamban R14del mutation carriers into distinct risk clusters, enabling the early identification of seemingly asymptomatic individuals at high risk for heart failure progression.
Deiman et al. (2026) studied this question. Molecular profiling identified asymptomatic PLN R14del carriers at higher risk for disease progression, with cluster 1 showing elevated markers of cardiac damage.
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