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Amar Silajdžić, Urtina Malja, Erisa Malja, E. Tahirović
0 30. 5. 2024.

Molecular basis of hereditary cardiomyopathy: A systematic review

Hereditary cardiomyopathies include a diverse spectrum of myocardial disorders characterized by mechanical and electrical abnormalities, among which hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are distinguished. This paper dives into the genetic foundations of these conditions, with a focus on mutations in genes encoding sarcomere proteins, thin filament proteins, and calcium homeostasis regulators. The familial aggregation of cardiomyopathies underscores the substantial genetic component, with autosomal dominant inheritance patterns predominant in some cases. Genetic testing and counseling emerge as pivotal tools for early diagnosis, risk assessment, and the formulation of personalized treatment strategies. The integration of genetic insights into clinical management holds promise for improving patient outcomes and reducing disease burden. Further analysis of the molecular mechanisms underlying hereditary cardiomyopathies is critical for identifying novel therapeutic targets and advancing precision medicine approaches. By comprehensively exploring the genetic underpinnings of cardiomyopathies, this paper contributes to our understanding of these complex diseases and highlights the potential for innovative interventions to enhance patient care in the field of cardiovascular medicine.

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