Identification of disease-specific pathways and modifiers in phospholamban R14del cardiomyopathy: rationale, design and baseline characteristics of DECIPHER-PLN cohort.

ABSTRACT:

Background

Phospholamban (PLN) p.Arg14del (R14del, R14^∆/+) is the most commonly identified pathogenic variant that causes cardiomyopathy in the Netherlands. Many disease characteristics are still unclear, including the phenotypic triggers, disease progression and disease-specific biomarkers. We aim to gain a better understanding of the R14^∆/+ pathophysiology by establishing a cohort across the R14^∆/+ disease spectrum.

Methods

The Disease spECifIc PatHways and modifiERs in PhosphoLambaN r14del cardiomyopathy (DECIPHER-PLN) cohort includes 101 participants, categorised as unaffected R14^∆/+ (n = 21), early affected R14^∆/+ (n = 42), end-stage R14^∆/+ (n = 28) and heart failure (HF) of another aetiology (n = 10). R1

SUBMITTER: Deiman FE 

PROVIDER: S-EPMC11953489 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature