DILATED CARDIOMYOPATHY: CLINICAL PHENOTYPES, GENETIC BASIS, AND PROGNOSTIC ASSESSMENT
Keywords:
Dilated cardiomyopathy, heart failure, genetic mutations, sarcomeric genes, TTN, LMNA, prognosis assessment, biomarkers, myocardial remodeling.Abstract
Dilated cardiomyopathy (DCM) is a multifactorial myocardial disorder characterized by progressive ventricular dilation and impaired systolic function, representing one of the leading causes of heart failure, arrhythmias, and sudden cardiac death worldwide. This article provides a comprehensive analysis of the clinical phenotypes, genetic underpinnings, and prognostic determinants of DCM with a focus on advancing modern diagnostic and therapeutic strategies. The study explores the molecular mechanisms of myocardial remodeling, highlighting the contribution of sarcomeric and cytoskeletal gene mutations (TTN, LMNA, DSP, BAG3, MYH7, etc.) and the interplay of viral and autoimmune factors. Phenotypic heterogeneity—including familial, idiopathic, arrhythmogenic, peripartum, and alcohol-related forms—is extensively reviewed. Biomarkers such as NT-proBNP, troponin I/T, and galectin-3, together with advanced imaging (echocardiography, cardiac MRI) and genetic screening, are discussed as key tools for prognostic assessment. The paper also evaluates pharmacogenetic approaches, the use of mechanical circulatory support prior to transplantation, and novel perspectives on gene therapy and molecular-level cardiac rehabilitation. The findings underscore that DCM development results from a complex interplay between genetic predisposition and environmental factors, emphasizing the need for individualized risk stratification to optimize patient outcomes.References
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