03/06/2026
Hypertrophic cardiomyopathy: comprehensive insights into pathogenic genes and genotype-phenotype associations
This review by Hao., L, Chen., X, and Bo., K discusses the current knowledge on hypertrophic cardiomyopathy (HCM) as a genetically heterogeneous disease driven primarily by sarcomeric gene mutations, especially MYH7 and MYBPC3, which account for the majority of genetically confirmed cases. It highlights that clinical presentation is highly variable and influenced by genotype, mutation type, and modifiers such as ethnicity, age, and s*x.
The authors emphasise that genotype-phenotype correlations are clinically important for risk stratification, early diagnosis, and family screening, although they remain incompletely defined due to variable penetrance and complex gene-environment interactions.
The review also highlights the facts of significant population-specific differences in genetic variants, phenotypes, and management practices, underscoring the need for tailored approaches.
Overall, it concludes that integrating genetic testing with clinical and imaging data is essential for advancing precision medicine, but challenges such as variant interpretation and heterogeneity must be addressed to optimise personalised management.
Read the full paper: https://hubs.la/Q04jY0jX0
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