Genetic and Genomic analysis of variants associated with inherited cardiac conditions and their predisposition in Ecuadorian Population

Abstract

Cardiovascular diseases are a major cause of death worldwide, and hereditary heart diseases can cause sudden morbidity and mortality, especially in young people. A research project was conducted to identify genes related to heart disease predisposition and their frequency in the admixture Ecuadorian population. A bioinformatic analysis was performed to identify genes associated with cardiac conditions, and next-generation sequencing was used to identify genomic variants in 60 individuals with 37 different clinical diagnoses. A total of 108 variants were found, including 11 pathogenic and 11 likely pathogenic and 71 VUS variants in 56 genes. Ethnicity was also found to be a factor in cardiovascular disease, in general the individuals had a major Native American ancestry. The study also highlights the importance of not only selecting patients with the same clinical diagnosis but also mapping several diseases to identify population variants. Overall, the study demonstrates the potential of bioinformatics and next-generation sequencing to identifying real associations between genes and hereditary heart conditions, which can ultimately contribute to the prevention of sudden deaths and a correct treatment.