HYPERTROPHIC CARDIOMYOPATHY: AN OVERVIEW OF THE MYBPC3 GENE MUTATION ASSOCIATED WITH SUDDEN CARDIAC DEATH
DOI:
https://doi.org/10.56238/levv17n57-049Keywords:
MYBPC3, Hypertrophic Cardiomyopathy, Genetic Mutation, Sudden DeathAbstract
Hypertrophic cardiomyopathy (HCM) is a genetic disease resulting from hereditary mutations in sarcomeric proteins, characterized by the thickening of the heart muscle, with or without ventricular flow obstruction, and the development of diastolic dysfunction, with left ventricular hypertrophy being its primary anatomical alteration. Sudden cardiac death is strongly associated with HCM, especially in athletes and young adults. This study aimed to review the pathogenic mechanisms related to mutations in the MYBPC3 gene and their association with sudden cardiac death, as well as to identify emerging therapeutic approaches related to the pathophysiology of the disease. This is a literature review based on the analysis of scientific articles indexed in the PubMed, SciELO, and Cochrane databases. The results evidenced that mutations in the MYBPC3 gene are responsible for approximately 50% to 60% of genetic HCM cases, showing a higher prevalence in elderly individuals. Furthermore, carriers of these mutations demonstrate changes in calcium homeostasis, characterized by increased sensitivity to the ion and progressive impairment of diastolic function with advancing age, which may explain the lower incidence of sudden cardiac death in young populations associated with this molecular profile. Genetic analyses involving genes directly or indirectly related to HCM contribute to early diagnosis and the estimation of clinical outcomes, allowing for more individualized strategies for risk stratification and therapeutic management.
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