Identification of variants in genes associated with hypertrophic cardiomyopathy in Mexican patients.

ABSTRACT: The objective of this work was to identify genetic variants in Mexican patients diagnosed with hypertrophic cardiomyopathy (HCM). According to world literature, the genes mainly involved are MHY7 and MYBPC3, although variants have been found in more than 50 genes related to heart disease and sudden death, and to our knowledge there are no studies in the Mexican population. These variants are reported and classified in the ClinVar (PubMed) database and only some of them are recognized in the Online Mendelian Information in Men (OMIM). The present study included 37 patients, with 14 sporadic cases and 6 familial cases, with a total of 21 index cases. Next-generation sequencing was performed on a predesigned panel of 168 genes associated with heart disease and sudden death. The sequencing ana

SUBMITTER: Garcia-Vielma C 

PROVIDER: S-EPMC10657276 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature