Polygenic Risk Scores in Dilated Cardiomyopathy: Towards the Future

Genome-wide association studies (GWASs) have recently shown that common genetic variations significantly affect the risk of developing dilated cardiomyopathy (DCM). This has enabled the development of polygenic scores (PGSs), which aim to aggregate the impact of multiple common genetic variants across the genome to provide an overall genetic risk score for disease manifestation and disease severity. In this review, we discuss the latest findings pertaining to GWASs and PGSs for DCM and various ways in which PGSs could improve the management of patients with DCM or risk of developing DCM.

In 2024 the two largest GWAS meta-analyses for DCM were published. Notably, both studies produced PGSs that were able to discriminate healthy subjects from DCM patients which brings promise for potential clinical application of the scores. Large-scale GWAS have identified common genetic variants associated with DCM, leading to the development of PGS, which show strong associations with disease risk and hold potential for clinical applications. However, before clinical implementation, further research is needed to explore their utility in real-world settings and across diverse populations.