Impact of genotype-phenotype associations on prognosis in dilated cardiomyopathy.

ABSTRACT:

Aims

Dilated cardiomyopathy (DCM) has a monogenic aetiology in up to 40% of patients. Understanding the spectrum of genotype-phenotype associations in DCM is crucial for risk stratification and personalized treatment. We aimed to (i) characterize genotype-specific features, (ii) evaluate whether phenotype-based clustering reflects underlying genotype, and (iii) compare the prognostic value of genotype- versus phenotype-based approaches.

Methods and results

A multicentre cohort of 534 DCM patients with a (likely) pathogenic variant were grouped by genotype (genotype-first approach) and clustered by clinical phenotype (phenotype-first approach). We compared clinical characteristics, identified genotype-phenotype associations, and evaluated outcomes, including all-cause mortali

SUBMITTER: Stroeks SLVM 

PROVIDER: S-EPMC12803617 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature