MORPHO-GENETIC VARIABILITY IN MYOCARDIAL TISSUE AFTER SEPTAL MYECTOMY IN PATIENTS WITH OBSTRUCTIVE HYPERTROPHIC CARDIOMYOPATHY: A FOUR-CASE SERIES STUDY
Background and Objective: Obstructive hypertrophic cardiomyopathy (OHCMP) is a heterogeneous disease with strong genetic determination. The study aimed to identify myocardial morphological features in OHCMP patients depending on genetic status and to assess correlations between morphology and mutations in key genes.
Materials and methods. A descriptive study included 4 OHCMP patients undergoing septal myectomy. Myocardial morphology was assessed using hematoxylin-eosin, PAS, and Masson Trichrome staining. Genetic testing was performed by next-generation sequencing (NGS), including 17 genes: ACTC1, DES, FLNC, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, TTR.
Results. Genetically positive patients (MYH7, GLA, PRKAG2) demonstrated a chaotic arrangement of cardiomyocytes, marked nuclear polymorphism, and fine-fibrous perivascular and pericellular myocardial fibrosis. Genetically negative and control patients showed a more ordered arrangement of cardiomyocytes, focal coarse-fibrous fibrosis, and no nuclear polymorphism. Regardless of genetic status, all patients showed signs of cardiomyocyte hypertrophy and dystrophy, as well as a positive PAS reaction.
Conclusion. Myocardial morphological features differ significantly depending on genetic status, underscoring the importance of integrating histological and genetic analyses for risk stratification and personalized management of OHCMP patients. These findings provide a foundation for further research and development of clinical recommendations for cascade screening and prognosis.
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Zhakayev M.A., Toktarova A.B., Tuleutayev R.M., Sergeyeva Ye.N. Morpho-genetic variability in myocardial tissue after septal myectomy in patients with obstructive hypertrophic cardiomyopathy: a four-case series study // Nauka i Zdravookhranenie [Science & Healthcare]. 2025. Vol.27 (6), pp. 30-37. doi 10.34689/SH.2025.27.6.004Похожие публикации:
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