Prevalence and Phenotypic Expression of Mutations in theMYH7 MYBPC3 and TNNT2 Genes in Familieswith Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-SectionalStudy

摘要

Background:Mutations in sarcomeric genes are found in 60-70% of individuals with familial forms of hypertrophic cardiomyopathy (HCM). However, this estimate refers to northern hemisphere populations. The molecular-genetic profile of HCM has been subject of few investigations in Brazil, particularly in the south of the country.