Why the study?
Genetic mutations play a significant role in hypertrophic cardiomyopathy development, prompting a summary of mutation mechanisms and potential treatment directions to improve genetic counseling, early diagnosis, and intervention.
Key points are not available for this paper at this time.
Design
Review
This review provides a comprehensive overview of the genetic mechanisms underlying hypertrophic cardiomyopathy, emphasizing the role of specific gene mutations in disease pathogenesis and the clinical utility of genetic testing.
Hypertrophic cardiomyopathy (HCM) is a hereditary disease of the myocardium characterized by asymmetric hypertrophy (mainly the left ventricle) not caused by pressure or volume load. Most cases of HCM are caused by genetic mutations, particularly in the gene encoding cardiac myosin, such as MYH7, TNNT2, and MYBPC3. These mutations are usually inherited autosomal dominantly. Approximately 30–60% of HCM patients have a family history of similar cases among their immediate relatives. This underscores the significance of genetic factors in the development of HCM. Therefore, we summarized the gene mutation mechanisms associated with the onset of HCM and potential treatment directions. We aim to improve patient outcomes by increasing doctors’ awareness of genetic counseling, early diagnosis, and identification of asymptomatic patients. Additionally, we offer valuable insights for future research directions, as well as for early diagnosis and intervention.
No takes yet. Share an insight, caveat, or question.
Chen et al. (2025) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: