New Genetic Variants Associated with Acquired Dilated Cardiomyopathy

pp. 3-5

Authors

  • Mariana Guerchicoff Ex Directora Consejo de Cardiología Genética de la Sociedad Argentina de Cardiología; Jefe de Arritmias y Electrofisiología Infantil del Hospital Italiano de Buenos Aires; Asesora Externa en Cardiología Genética, Instituto Cardiovascular Buenos Aires. https://orcid.org/0009-0004-9271-666X

DOI:

https://doi.org/10.7775/rac.es.v93.i1.20869

Abstract

Genome Wide Association Studies (GWAS) incorporated a paradigm set up according to the ‘polygenic risk’ scheme. This risk takes into account many single nucleotide polymorphisms (SNPs), common in the general population, in different genes that combined can additively exert a large effect on the expression of a condition. Combining the effects of all these SNPs captures much of the genetic heritability and can be used to construct prediction models or polygenic risk scores (PRS). The use of PRSs to predict a genetically determined causal propensity independent of traditional risk factors that have so far not been shown to be detectable in pre-symptomatic or pre-clinical stages is bringing important insights to cardiovascular disease research, especially cardiomyopathies. There are no precedents for PRS studies in chagasic cardiomyopathy, and this highlights the importance of this work, in the intention of accurate detection of individuals who might benefit from early intervention, and of having local data.

 

How to cite this article

Guerchicoff M. New Genetic Variants Associated with Acquired Dilated Cardiomyopathy. Rev Argent Cardiol 2025;93:3-5. https://doi.org/10.7775/rac.v93.i1.20869

Published

2025-03-19