Desmoplakin Cardiomyopathy: Myocarditis-Like Episodes

桥粒蛋白心肌病:类似心肌炎的发作

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Abstract

We report a case of a 21-year-old woman who presented with recurrent chest pain over a three-year period, initially attributed to myocarditis. She first presented with elevated troponin levels and myocardial oedema on cardiac magnetic resonance imaging (MRI), consistent with acute myocarditis. Despite symptomatic management and a gradual return to activity, she experienced multiple relapses characterised by chest pain, subtle left ventricular dysfunction, and persistent myocardial scarring on serial MRI, but without active inflammation. A multidisciplinary evaluation and genetic testing revealed a heterozygous deletion in the desmoplakin (DSP) gene, confirming the diagnosis of desmoplakin cardiomyopathy. Electrocardiographic abnormalities included T-wave inversions in the anterior and lateral leads. Due to her elevated risk of sudden cardiac death, she underwent implantation of a subcutaneous implantable cardioverter-defibrillator (s-ICD) for primary prevention. This case highlights that DSP cardiomyopathy should be considered in the differential diagnosis of recurrent myocarditis-like presentations, particularly in young individuals with non-ischaemic findings and suggestive imaging features.

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