Home » BCS Editorials » Polygenic Risk Scores in Sarcomeric Cardiomyopathies: A New Era?
Polygenic Risk Scores in Sarcomeric Cardiomyopathies: A New Era?
Yande Kasolo
25/01/2021
Take home messages
Sarcomeric Cardiomyopathies such as HCM and DCM have historically been considered to be monogenic disorders, adhering to Mendelian inheritance. However, this does not explain the significant proportion of patients in whom a pathogenic variant is not identified.
Genome Wide Association Studies (GWAS) have identified Single Nucleotide Polymorphisms (SNPs), combinations of which may contribute to certain cardiomyopathic phenotypes.
This has led to the creation of Polygenic Risk Scores, with early evidence suggesting that a higher PRS may correlate with more severe phenotypes of HCM.
Although this may help us risk stratify patients, it is unlikely to replace the comprehensive assessment afforded by ECG, imaging modalities, detailed pedigree assessment and the clinical experience of the reviewing physician.
