Dilated Cardiomyopathy: From Genetics to Cardiac MRI

Dilated cardiomyopathy (DCM) is a major cause of heart failure and sudden cardiac death, characterized by left ventricular dilation and systolic dysfunction in the absence of significant coronary or valvular disease. Although traditionally viewed as an idiopathic condition, DCM is now recognized as a genetically driven disorder in a substantial proportion of cases. Pathogenic variants affecting structural, cytoskeletal, desmosomal, and nuclear proteins not only initiate myocardial remodeling but also influence disease progression and arrhythmic vulnerability. Importantly, genetic findings do not merely explain disease etiology but also shape its clinical expression. The specific gene involved, as well as the type of mutation, can influence the pattern of ventricular remodeling, the distribution of myocardial fibrosis, and the degree of electrical instability. Cardiac magnetic resonance has emerged as a central tool in bridging molecular insights with clinical assessment. By enabling accurate evaluation of ventricular volumes and function, as well as detailed tissue characterization through late gadolinium enhancement (LGE) and parametric mapping, cardiac magnetic resonance reveals imaging patterns that often mirror the underlying genetic substrate. The integration of genetic testing and advanced imaging provides a more comprehensive understanding of dilated cardiomyopathy, allowing improved risk stratification and supporting a personalized approach to patient management.