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Desmoplakin Cardiomyopathy Presenting With Recurrent Myopericarditis Responsive to Interleukin-1 Blockade
Rocio I Lopez1, Michele Marchetta1, Michael Ayers1
1Department of Medicine, Robert M. Berne Cardiovascular Research Center, University of Virginia, Charlottesville, Virginia, USA.
Recurrent myopericarditis linked to desmoplakin (DSP) variants may benefit from interleukin-1 blockade. Rilonacept effectively reduced symptoms and medication dependence in a patient with DSP variants.
Area of Science:
- Cardiology
- Genetics
- Immunology
Background:
- Desmoplakin (DSP) gene variants are associated with increased risk of heart failure and arrhythmias in acute myopericarditis.
- Recurrent myopericarditis presents challenges in management, often requiring long-term immunosuppression.
Observation:
- A 25-year-old woman experienced recurrent myopericarditis with elevated troponin I, refractory to prednisone.
- Genetic testing revealed pathogenic variants in DSP, KCNQ1 (long-QT syndrome), and NOD2 (Crohn disease risk).
Findings:
- Treatment with the interleukin-1 inhibitor rilonacept led to symptom resolution and normalization of troponin I levels.
- The patient successfully weaned off prednisone and showed improved exercise tolerance after initiating rilonacept.
- A subcutaneous implantable cardioverter-defibrillator was implanted due to arrhythmia risk.
Implications:
- Interleukin-1 blockade with rilonacept shows promise for managing refractory DSP-related recurrent myopericarditis.
- This case underscores the importance of genetic testing in complex myopericarditis cases.
- Targeting IL-1 may offer a novel therapeutic strategy for specific genetic cardiomyopathies.
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