Dilated cardiomyopathy (DCM) represents one of the most common causes of non-ischemic heart failure, characterised by ventricular dilation alongside systolic dysfunction. Despite advances in therapy, DCM mortality rates remain high, and it is one of the leading causes of heart transplantation. It was recently recognised that many patients present minor structural cardiac abnormalities and express different arrhythmogenic phenotypes before overt heart-failure symptoms. This has raised several diagnostic and management challenges, including the differential diagnosis with other phenotypically similar conditions, the identification of patients at increased risk of malignant arrhythmias, and of those who will have a worse response to medical therapy. Recent developments in complementary diagnostic procedures, namely cardiac magnetic resonance and genetic testing, have shed new light on DCM understanding and management. The present review proposes a comprehensive and systematic approach to evaluating DCM, focusing on an improved diagnostic pathway and a structured stratification of arrhythmic risk that incorporates novel imaging modalities and genetic test results, which are critical for guiding clinical decision-making and improving outcomes.

Background: Arrhythmogenic cardiomyopathy (ACM) is a genetic condition characterized by fibrofatty replacement of myocardial tissue, leading to arrhythmias and structural heart changes. Recent studies have identified an acute inflammatory phase, or ‘hot phase’, within the progression of ACM that presents with clinical features similar to myocarditis. This phase complicates the differentiation between ACM and myocarditis, posing a diagnostic challenge. Case summary: We present two cases of young male patients, both with mutations in the DSP and LMNA genes, who initially presented with symptoms of myocardial inflammation. Patient 1, a 23-year-old male, presented with pleuritic chest pain, elevated troponin, and imaging findings suggesting myocarditis. Cardiac magnetic resonance (CMR) revealed extensive subepicardial late gadolinium enhancement (LGE) in a non-ischaemic pattern. Genetic testing confirmed a likely pathogenic (LP) LMNA mutation. Patient 2, a 26-year-old male with family history of sudden cardiac death, presented similarly with chest pain and elevated biomarkers. His CMR showed intramural LGE, and genetic testing identified a LP DSP mutation. He underwent implantation of a subcutaneous defibrillator (ICD) due to arrhythmic risk. Discussion: This case series underscores the importance of recognizing the ‘hot phase’ of ACM, which can clinically mimic myocarditis. Cardiac magnetic resonance is crucial for differentiating these entities, while genetic testing confirms the diagnosis, offering prognostic information. Mutations in the LMNA and DSP genes, particularly associated with inflammation in ACM, require consideration of arrhythmia prevention strategies, such as ICD implantation. Multidisciplinary management and advanced imaging play essential roles in the care of these patients.