Assuntos
Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/etiologia , Estudos de Associação Genética , Predisposição Genética para Doença , Variação Genética , Alelos , Miosinas Cardíacas/genética , Miosinas Cardíacas/metabolismo , Consanguinidade , Mutação da Fase de Leitura , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Imuno-Histoquímica , Cadeias Pesadas de Miosina/genética , Cadeias Pesadas de Miosina/metabolismo , Linhagem , TranscriptomaRESUMO
Hypertrophic cardiomyopathy (HCM) is the most common inherited heart muscle disease, with a prevalence of at least 1 in 500 in the general population. The disease is pleiotropic and is characterized by an increased stiffness of the myocardium, partly due to changes in the extracellular matrix (ECM), with elevated levels of interstitial fibrosis. Myocardial fibrosis is linked to impaired diastolic function and possibly phenotypic heterogeneity of HCM. The ECM consists of a very large number of proteins, which actively interact with each other as well as with myocardial cells. The role of other multiple components of the ECM in HCM has not been defined. Fibulin-2 is a glycoprotein component of the ECM, which plays an important role during embryogenesis of the heart; however, its role in adult myocardium has not been adequately studied. We here describe, for the first time, abnormal expression of fibulin-2 in the myocardium in patients with HCM as compared to normal controls. This abnormal expression was localized in the cytoplasm of myocardial cells and in the interstitial fibroblasts. In addition, fibulin-2 levels, measured by ELISA, were significantly elevated in the serum of patients with HCM as compared to normal controls.
