‘The imitation game’: a heart failure case report with a great diagnostic twist

Abstract

Abstract Background Arrhythmogenic ventricular cardiomyopathy (AVC) is a hereditary cardiomyopathy that has been associated with mutations in genes encoding for components of the cardiac desmosome including desmoglein-2 (DSG-2). Case summary A 49-year-old male presented with decompensated heart failure and ventricular arrythmias. A cardiac magnetic resonance scan demonstrated a dilated left ventricle (LV) with severely impaired systolic function and extensive subepicardial late gadolinium enhancement in the lateral wall. An 18F-fluorodeoxyglucose-positron emission tomography (FDG-PET) scan identified myocardial uptake consistent with inflammation. Following treatment with steroids for presumed cardiac sarcoidosis, a repeat FDG-PET confirmed resolution of inflammation. A dilated cardiomyopathy/AVC gene panel, however, subsequently identified a pathogenic variant in the DSG-2 gene. Discussion We describe the case of a patient presenting with clinical and imaging features suggestive for cardiac sarcoidosis, however genetic testing established a diagnosis of DSG-2 associated AVC. DSG-2 mutations in AVC are associated with frequent LV involvement and heart failure. Active inflammation has been observed in other cardiomyopathies, specifically in desmoplakin cardiomyopathy which has a similar clinical course to DSG-2. To our knowledge, this is the first case of DSG-2 cardiomyopathy presenting in this manner. We encourage clinicians to have a high index of suspicion of inflammatory cardiomyopathies as a differential to myocarditis and cardiac sarcoidosis, when patients present with evidence of decompensated heart failure, arrhythmias, and active myocardial inflammation.