Victor Tavares Trindade et al. Núbia Andrade Silva Nassandro Machado Garcia Júnior Anna Luiza Souza … Maurício Lopes Prudente Giulliano Gardenghi
Introduction
Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease. It has an autosomal dominant inheritance pattern, and to date, 11 genes have been identified among the 1400 mutations involved in its pathogenesis. The most common are the β-myosin heavy chain (MYH7), myosin-binding protein C (MYBPC3), and troponin T (TNNT2), which encode cardiac sarcomeric proteins. Three mutations are involved in its pathophysiology: missense, insertions, and deletions. The most common mutation is missense, which causes a punctual exchange between two nucleic acids, resulting in a change in the nucleotide conformation, leading to the formation of a codon that codes for a different amino acid.,
HCM promotes changes in cardiac structure, with left ventricular hypertrophy (LVH) without another underlying etiology being the most common anatomical alteration. Its symptomatology varies according to the HCM profiles, and can present asymptomatically, with minor symptoms such as dyspnea on exertion, precordialgia, fatigue, presyncope and syncope, or in a severe form, evolving with advanced heart failure (HF), ventricular and atrial arrhythmias, and even sudden cardiac death.,
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