Cardiomyopathies: Evolution of pathogenesis concepts and potential for new therapies

Abstract

Cardiomyopathies are defined as diseases of the myocardium with associated structural and functional abnormalities. Knowledge of these pathologies for a long period was not clear in clinical practice due to uncertainties regarding definition, classification and clinical diagnosis. In recent decades, major advances have been made in the understanding of the molecular and genetic issues, pathophysiology, and clinical and radiological assessment of the diseases. Progress has been made also in management of several types of cardiomyopathy. Advances in the understanding of these diseases show that cardiomyopathies represent complex entities. Here, special attention is given to evolution of classification of cardiomyopathies, with the aim of assisting clinicians to look beyond schematic diagnostic labels in order to achieve more specific diagnosis. Knowledge of the genotype of cardiomyopathies has changed the pathophysiological understanding of their etiology and clinical course, and has become more important in clinical practice for diagnosis and prevention of cardiomyopathies. New approaches for clinical and prognostic assessment are provided based on contemporary molecular mechanisms of contribution in the pathogenesis of cardiomyopathies. The genotype-phenotype complex approach for assessment improves the clinical evaluation and management strategies of these pathologies. The review covers also the important role of imaging methods, particularly echocardiography, and cardiac magnetic resonance imaging in the evaluation of different types of cardiomyopathies. In summary, this review provides complex presentation of current state of cardiomyopathies from genetics to management aspects for cardiovascular specialists.

Keywords: Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Arrhythmogenic cardiomyopathy, Secondary cardiomyopathy

Core tip: Cardiomyopathies represent a different group of disorders in which myocardium is itself structurally and functionally abnormal. During recent decades, the genetics, pathophysiology and diagnosis of cardiomypathy have advanced from the traditional methods of clinical presentation to new genetic and imaging techniques. Nevertheless, the differences in definition, classification, pathophysiological mechanisms and diagnosis are controversial issues in clinical practice. The purpose of this review is to present the current state of classification, genetics, diagnostic approaches and management in order to provide useful instructions for clinical practice.