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Article Abstract
Acute myopericarditis in patients with pathogenic desmoplakin (DSP) variants are associated with a high risk for heart failure and cardiac arrhythmias. We present the case of a 25-year-old woman who presented with recurrent myopericarditis with chest pain and elevated troponin I levels despite escalating prednisone therapy. Genetic testing revealed a pathogenic variant in DSP along with a pathogenic variant in KCNQ1 associated with long-QT syndrome and a NOD2 variant associated with an increased risk for Crohn disease. A subcutaneous implantable cardioverter-defibrillator was implanted. The patient was started on the interleukin-1 inhibitor rilonacept, resulting in a significant reduction in symptoms and troponin I levels and the ability to wean off prednisone. Nine months after initiating rilonacept, the patient remained asymptomatic, had been off prednisone for 8 months, and demonstrated improved exercise tolerance and normalized troponin I levels. This case highlights the potential benefit of interleukin-1 blockade in managing DSP-related recurrent myopericarditis.
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| http://dx.doi.org/10.1016/j.jaccas.2025.104039 | DOI Listing |
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Desmoplakin Cardiomyopathy Presenting With Recurrent Myopericarditis Responsive to Interleukin-1 Blockade.
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Department of Medicine, Robert M. Berne Cardiovascular Research Center, University of Virginia, Charlottesville, Virginia, USA. Electronic address:
Acute myopericarditis in patients with pathogenic desmoplakin (DSP) variants are associated with a high risk for heart failure and cardiac arrhythmias. We present the case of a 25-year-old woman who presented with recurrent myopericarditis with chest pain and elevated troponin I levels despite escalating prednisone therapy. Genetic testing revealed a pathogenic variant in DSP along with a pathogenic variant in KCNQ1 associated with long-QT syndrome and a NOD2 variant associated with an increased risk for Crohn disease.
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