The case of a 49-year-old man with acute onset of heart failure is presented. The initial work-up showed a dilated cardiomyopathy with severely reduced left ventricular ejection fraction. In the differential diagnostic process, hypertensive, ischaemic, and valvular aetiologies were discarded. Subsequently, a cardiac magnetic resonance revealed global hypokinesis and inferior and anterior subepicardial fibrosis. Once differential diagnoses of subepicardial fibrosis (myocarditis, sarcoidosis, and Chagas disease) were discarded, a genetic panel was performed, resulting in a heterozygous mutation of desmoplakin (DSP) gene c.6697_6698del. A left-dominant DSP arrhythmogenic cardiomyopathy mutation was diagnosed. Structural myocardial abnormalities and ventricular arrhythmias characterize arrhythmogenic cardiomyopathy. Up to 50% of cases are associated with mutations in DSP genes (JUP, DSP, and PKP2). DSP is the fundamental component of the desmosome structure and provides structural support through intercellular adhesion. Therefore, when frequent differential diagnoses are discarded, genetic studies for dilated cardiomyopathy and DSP mutation should be considered.
Keywords: Case report; Genetic testing; Heterozygous desmoplakin gene mutation; Inflammatory dilated cardiomyopathy; Left-dominant arrhythmogenic cardiomyopathy.
© 2023 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.