Hypertrophic cardiomyopathy patients with MYBPC3 and MYH7 mutations showed specific patterns of hypertrophy, improving genotype-phenotype correlation.
Do specific genetic variants correlate with distinct echocardiographic hypertrophic patterns in patients with hypertrophic cardiomyopathy?
Specific genetic mutations in hypertrophic cardiomyopathy correlate with distinct echocardiographic patterns of hypertrophy, which may help refine genotype-phenotype correlations and guide genetic testing.
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Abstract Aims This study aims to clarify the association between hypertrophic patterns and genetic variants in hypertrophic cardiomyopathy (HCM) patients, contributing to the advancement of personalized management strategies for HCM. Methods and results A comprehensive evaluation of genetic mutations was conducted in 392 HCM-affected families using Whole Exome Sequencing. Concurrently, relevant echocardiographic data from these individuals were collected. Our study revealed an increased susceptibility to enhanced septal and interventricular septal thickness in HCM patients harbouring gene mutations compared with those without. Mid-septal hypertrophy was found to be associated predominantly with myosin binding protein C3 (MYBPC3) variants, while a higher septum-to-posterior wall ratio correlated with myosin heavy chain 7 (MYH7) variants. Mutations in MYH7, MYBPC3, and other sarcomeric or myofilament genes (troponin I3 TNNI3, tropomyosin 1 TPM1, and troponin T2 TNNT2) showed a relationship with increased hypertrophy in the anterior wall, interventricular septum, and lateral wall of the left ventricle. In contrast, alpha kinase 3 (ALPK3)-associated hypertrophy chiefly presented in the apical region, while hypertrophy related to titin (TTN) and obscurin (OBSCN) mutations exhibited a uniform distribution across the myocardium. Hypertrophic patterns varied with the type and category of gene mutations, offering valuable diagnostic insights. Conclusion Our findings underscore a strong link between hypertrophic patterns and genetic variants in HCM, providing a foundation for more accurate genetic testing and personalized management of HCM patients. The novel concept of ‘gene-echocardiography’ may enhance the precision and efficiency of genetic counselling and testing in HCM.
Zhou et al. (Thu,) reported a other. Hypertrophic cardiomyopathy patients with MYBPC3 and MYH7 mutations showed specific patterns of hypertrophy, improving genotype-phenotype correlation.