Hypertrophic Cardiomyopathy Gene And Phenotype Relationship

BackgroundIdiopathic hypertrophic cardiomyopathy (HCM) is characterised by myocardial hypertrophy, occurring as a familial disorder, with an autosomal dominant pattern of inheritance, as well as sporadic clinical presentation. Clinical phenotype of hypertrophic cardiomyopathy exhibits significant inter-and intra-familial heterogeneities. This leads to speculate that other factors, either genetic or environmental, modify the phenotypic expression of the mutated gene.ObjectiveTo test if MYBPC3, NELIN and α-GAL polymorphisms could modify the expression of cardiac hypertrophy.Subjects and methodsThe study was approved by the review board of Ministry of Public Health, Ministry of Science and Technology. A totle of 226 patients with hypertrophic cardiomyopathy and 226 age-and sex-matched controls were recruited according to the diagnostic criteria of WHO. Genotyping was...