Why the study?
Hypertrophic cardiomyopathies are among the most common genetic disorders but may be underdiagnosed, with sequencing core sarcomere gene panels remaining the primary diagnostic tool.
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Next-generation sequencing in a Lithuanian HCM cohort yielded a 16.7% diagnostic rate, identifying four novel variants and confirming that pathogenic variants correlate with younger age at diagnosis and greater septal hypertrophy.
Hypertrophic cardiomyopathies (HCMs) are among the most common genetic disorders; however, they might be underdiagnosed. Sequencing core sarcomere gene panels remain the main diagnostic tool. We present the results of HCM genetic testing performed at Lithuania’s tertiary care center. All patients with diagnosed or clinically suspected HCM underwent next-generation panel sequencing. Of 204 patients, 34 (16.7%) received a genetic diagnosis. The most commonly affected genes were MYBPC3 and MYH7. Notably, two patients were found to have LEOPARD syndrome due to PTPN11 gene variants. Our results indicate that patients with an identified pathogenic variant were diagnosed with HCM at a younger age and exhibited a more severe phenotype (greater septal wall thickness), although no clear correlation with family history was observed. In addition, four novel MYBPC3 variants, c.3467dup, c.1503C>G, c.2610dup, and c.1251del, were identified.
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Šukys et al. (2025) studied this question.
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