[Myocardiopathies (II). Genetic changes in the etiopathogenesis of hypertrophic myocardiopathy. The therapeutic prospects].
The genetical characterization of any disease implies its immediate theoretic and practical reorganization since all the basic clinical aspects such as ethology, diagnosis, prognosis, prevention and finally treatment are affected. This can be the fact for hypertrophic myocardiopathy in the near future. Recently, mutations in some new genes causing this alteration, apart from those found in the beta-myosin heavy chain gene, have been identified. Hypertrophic cardiomyopathy could be classified etiopathogenetically as primary, if it is due to a genetic alteration in any of the components of the sarcomere, and secondary when the initial factor is external, although it will be eventually reflected in a malfunction of the sarcomere. Therefore hypertrophic cardiomyopathy could be defined as a myocardial disorder with and autosomic hereditary pattern which is characterized by a ventricular hypertrophy due to alterations in the cardiac sarcomere. Detected mutations so far, which have been admitted to be the primary alteration in this disease, are localized in the beta-myosin heavy chain gene (14q1), in the alpha-tropomyosin gene (15q2), in the cardiac troponin T gene (1q3), as well as in the chromosome 11 p13-q13 loci. Different authors have pointed out a possible epigenetic mechanism produced by endogenous or environmental secondary factors as responsible for hypertrophic myocardiopathy.(ABSTRACT TRUNCATED AT 250 WORDS)
D002312:Cardiomyopathy, Hypertrophic / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D004247:DNA / Q000235:genetics; D015316:Genetic Therapy; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype
D004247:DNA
Miocardiopatías (II). Alteraciones genéticas en la etiopatogenia de la miocardiopatía hipertrófica. Perspectivas terapéuticas.