The Role of 4q25 Variants and Atrial Fibrillation Complications in Cardiomyopathies: Insights from an Eastern Slovak Retrospective Cross-sectional Pilot Study

Background: The study aims to contribute to understanding the complex interplay between 4q25 variants, cardiomyopathy, and atrial fibrillation (AF) complications in 167 Eastern Slovak individuals. Materials and Methods: Our retrospective, cross-sectional, pilot study included 119 patients with cardiomyopathy and 48 controls. The data were collected through a comprehensive assessment of anthropometric and health characteristics, AF presence, lifestyle factors, and genotyping analysis of rs2200733 and rs10033464 variants. Results: Significant differences in baseline characteristics, especially left atrium diameters, were observed within patient subgroups divided based on AF presence (70 CMP and 49 CMP + AF patients). AF patients were older and had a higher cardiovascular risk. The distributions of the rs2200733 and rs10033464 variants in participant subgroups did not differ significantly. The presence of risk alleles was slightly higher in the CMP + AF group. The rs10033464T allele showed a stronger association with risk variables than the rs2200733T allele. The T allele carriers for both variants had worse cardiovascular profiles and a higher AF risk, but this was not statistically significant. Results also underscore the importance of considering ethnicity and genetic background when interpreting the clinical significance of 4q25 AF-associated variants. Conclusion: The pilot study examines cardiomyopathy’s complexity, focusing on AF and 4q25 variants as severity indicators, suggesting understanding their impact on patient outcomes could be useful in personalized interventions.