ABSTRACT
This chapter offers an overview of the current state of knowledge of dilated cardiomyopathy (DCM), a primary heart disease characterized by left ventricle dilatation and/or dysfunction with a frequent genetic background. An accurate etiological definition and prognostic stratification at the diagnosis by using ECG, echocardiography, cardiac magnetic resonance, cardiopulmonary testing, and genetic data should be always associated with a periodic re-evaluation and re-assessment during follow-up. This clinical approach has permitted a substantial improvement of DCM prognosis during the last decades. In this context, genotype-phenotype correlation and genotype-environment interactions are becoming a necessary key point in clinical management of DCM patients, with several implications. More than 50 genes have been identified affecting proteins of a wide variety of cellular structures such as the sarcomere, cytoskeleton, nuclear envelope, sarcolemma, ion channels, and intercellular junctions. The maximal effort towards the identification of the specific causes of DCM, including genetic and inflammatory processes, is essential for early and accurate risk stratification and therapeutic choice. Future research in DCM may lead to more personalized management towards the application of precision medicine in DCM.
