Desmoplakin Cardiomyopathy Presenting as Recurrent Myocarditis Treated With Immunosuppression
Jacob Abdaem1, Nathan Leader2, Brennan A Ballantyne3
1Department of Cardiac Sciences, University of Calgary, Calgary, Alberta, Canada.
JACC. Case Reports
|August 6, 2025
Summary
Desmoplakin (DSP) cardiomyopathy, a genetic heart condition, can present with inflammation. A novel DSP variant was identified, leading to a proposed management algorithm including immunosuppression and heart failure therapies.
Area of Science:
- Cardiology
- Genetics
- Immunology
Background:
- Desmoplakin (DSP) cardiomyopathy is a genetic disorder.
- It is associated with myocarditis, heart failure, and sudden cardiac death.
Observation:
- A patient presented with palmoplantar keratoderma, recurrent myocarditis, and cardiac inflammation.
- Genetic testing revealed a novel heterozygous DSP truncating variant (c.123C>G, p.Tyr41*).
- Immunosuppression with prednisone and mycophenolate mofetil improved cardiac inflammation.
Findings:
- A novel DSP truncating variant linked to inflammatory cardiomyopathy was identified.
- The variant was also found in the patient's sister, who had occult cardiomyopathy and myocardial fibrosis.
- The proposed algorithm incorporates predictive testing, immunosuppression, risk stratification, and heart failure management.
Implications:
- This study identifies a new DSP variant associated with inflammatory cardiomyopathy.
- The proposed management algorithm offers a structured approach to treating DSP cardiomyopathy.
- Early diagnosis and intervention, including immunosuppression and heart failure therapy, may improve patient outcomes.
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