Evolution of clinical and genetic concepts of cardiomyopathies

The definitions and classifications of cardiomyopathies are presented from a historical perspective based on an analysis of databases on platforms such as PubMed, Web of Science, Scopus, and Google Scholar, using appropriate keywords. It is noted that the implementation of high-tech research methods is accompanied by the creation of concepts of cardiomyopathies, establishing etiological and pathogenetic links that are being transformed into clinical signs, which require stratification, risk factor assessment, and prognosis. The diagnostic value of structural and functional heart anomalies for ranking classical phenotypes of dilated, hypertrophic, restrictive cardiomyopathies, and arrhythmogenic right ventricular cardiomyopathy is аnalyzed. A description is provided of a new phenotype of non-dilated left ventricular cardiomyopathy and syndromes associated with cardiomyopathy phenotypes such as left ventricular hypertrabeculation (non-compaction) and takotsubo syndrome. The possibilities of genetic research in determining the primary etiological factors of myocardial damage, risk groups for-ming are analyzed. It is noted that the prerequisite for the application of laboratory genetic methods in practical work is genetic analysis at the family and individual level with establishing genealogical, sex-age, phenotypic, and other characteristics of patients and their relatives. It is determined that the interpretation of the results of a comprehensive clinical examination and complete genetic testing provides a fundamental base and practical tools for the stratification of symptoms and differentiation of cardiomyopathies, timely implementation of measures to eliminate arrhythmias, prevent sudden cardiac death in patients, and for providing consultation on prognostic and preventive medical recommendations to family members.