Edmar Atik et al. Gabriela Nunes Leal Marcelo B. Jatene
Introduction
Hypertrophic cardiomyopathy (HCM), characterized by hypertrophy of the left ventricle, has no etiological explanation under conditions of the usual diseases that cause cardiac overloads like systemic arterial hypertension, obstructive congenital heart diseases, and other pathologies. – It results from cardiovascular genetic pathology causing a complex disease, from gene diversity (more than 1400 mutations identified in 11 different genes) to phenotypic expression, histological characteristics, and manifested symptoms. Beta myosins (MYH7) genes occur in 35% of the cases, and myosin is linked to protein C (MYBPC3) in 49%, corresponding to three-quarters of the pathogenic mutations. Higher evolutionary risk is observed in the first group of changes, mainly to sudden death. The breakdown of myofibrils with bizarre nuclei and increased extracellular connective tissue characterize the histological findings.
Genetic diagnosis is achieved in 80% of these cases in children, which is important for risk stratification, therapeutic planning, and genetic counseling.
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