Desmoplakin Cardiomyopathy Presenting With Recurrent Myopericarditis Responsive to Interleukin-1 Blockade
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.
Authors
- Rocio I Lopez
- Pamela Kay Mason (ORCID: https://orcid.org/0000-0002-4276-2391)
- Nisha A. Gilotra (ORCID: https://orcid.org/0000-0002-4511-8008)
- Alessio Gasperetti (ORCID: https://orcid.org/0000-0003-3432-070X)
- Antonio Abbate (ORCID: https://orcid.org/0000-0002-1930-785X)
- Michele Marchetta
- Michael Ayers
- Matthew Thomas (ORCID: https://orcid.org/0000-0002-7819-7988)
Institutions
- Johns Hopkins University (US)
- Johns Hopkins Medicine (US)
- University of Virginia (US)
Publication Details
- Journal
- JACC Case Reports
- Published
- 2025-08-01
- DOI
- https://doi.org/10.1016/j.jaccas.2025.104039
- Citations
- 4
- Primary Topic
- Viral Infections and Immunology Research
- Type
- article
- Field-Weighted Citation Impact
- 5.55