Comparative characteristics of structural and functional echocardiographic parameters in patients with familial hypertrophic cardiomyopathy with MYBPC3 and MYH7 gene variants

Aim. To compare echocardiographic parameters in patients with familial hypertrophic cardiomyopathy and confirmed variants in the MYH7 and MYBPC3 genes. Material and methods. This study included a comprehensive assessment of echocardiographic parameters in 48 patients with hypertrophic cardiomyopathy, including 14 men and 34 women, aged 18-77 years. Subjects were divided into two groups based on confirmed variants in the MYH7 and MYBPC3 genes. Results. Patients with a MYBPC3 gene variant had significantly larger right atrial size and left ventricular (LV) posterior wall thickness (p=0,42, p=0,002), while LV systolic function, assessed using the additional speckle tracking echocardiography, was significantly lower compared to patients with a variant in the MYH7 gene (p=0,021). Conclusion. Patients with a variant in the MYBPC3 gene showed significant changes in structural and functional echocardiography parameters, indicating a less favorable prognosis for this group of patients.