title: [Mutations genes in primarly cardiomyopathies].
abstract: Diagnosis of primarly cardiomypathies refers to genes discorders in chromosomes. Aim of this paper is to show genetics and molecular knowledges published so far. Familiar form hypertrophic cardiomyopathy is hereditable autosomatically dominantly in any of 10 genes that regulate contractile, structural and regulative function with predomination of mutation in gene for heavy chaire of myocardiac beta myosin localized at 14 chromosome (more than 200 mutation). Sporadic forms appears autosomatically recessively as the result of new mutation or as non-genetic form. Familiar dilated cardiomyopathy is associated with mutation more than 10 genes with frequent mutation of genes (beta myosin of heavy chain, cardiac T throponin, phospholamban and cardiospecific free methavinculin genes) and with clinical features that are mainly uknown (associated with peripheral myopathies). Restrictive cardiomyopathy is considered that the idiopathic restrictice cardiomyopathies has, also, hereditable atiology. A lot of the ries explain genes of this cardiomyopathy with predomination of heredithy with autosomatically dominant type (desmoplacin mutation) with variable expression of genes at 14, 1, 2, 3, 17 and 18 chromosome with programmed myocit death-apoptosis.
authors.affiliation: Kardiolosko odjeljenje, Interna klinika, Univerzitetsko klinicki centar Tuzla.
authors.forename: Fahir
authors.initials: F
authors.lastname: Baraković
authors.forename: Zumreta
authors.initials: Z
authors.lastname: Kusljugić
authors.forename: Izet
authors.initials: I
authors.lastname: Masić
mesh_terms: D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics; D009202:Cardiomyopathies / Q000235:genetics*; D002311:Cardiomyopathy, Dilated / Q000235:genetics; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics; D002313:Cardiomyopathy, Restrictive / Q000235:genetics; D006801:Humans; D009154:Mutation