Key result
Pathogenic partial desmoplakin deletion linked to recurrent myocarditis with left-dominant fibrosis.
Why the study?
Recurrent acute myocarditis is an uncommon clinical scenario that may suggest an underlying genetic cardiomyopathy.
Case Report (n=1)
Recurrent acute myocarditis can be a clinical manifestation of desmoplakin cardiomyopathy, emphasizing the need for genetic testing in patients with recurrent myocarditis and left-dominant fibrosis.
Answers are grounded in this paper and cite their sources.
May support genetic testing in recurrent myocarditis with left-dominant fibrosis; leaves open broader applicability.
Background Recurrent acute myocarditis is an uncommon clinical scenario that may suggest the presence of an underlying genetic cardiomyopathy. Case summary A 30-year-old woman presented to the emergency department with recurrent acute myocarditis in 2020 and 2022 and presented to the consult with chest pain in 2023. A syndromic diagnostic workup ruled out infectious, autoimmune, and toxic etiologies. Cardiac magnetic resonance imaging revealed subepicardial and mid-myocardial edema and fibrosis, predominantly affecting the left ventricle, which was subsequently confirmed by an endomyocardial biopsy showing chronic inflammation and interstitial fibrosis. Genetic testing ultimately identified a pathogenic partial deletion in the desmoplakin cardiomyopathy DSP gene, establishing the underlying cause. Management included antiarrhythmic therapy, genetic counseling, lifestyle modifications, and the implantation of a cardioverter-defibrillator Discussion Desmoplakin cardiomyopathy is a genetic disorder that can mimic recurrent myocarditis through inflammatory “hot phases.” Recognition of this phenotype is essential in patients with recurrent myocarditis, especially when imaging findings show left-dominant fibrosis and arrhythmic features. Early diagnosis has important implications for treatment, prognosis, and prevention of sudden cardiac death.
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T et al. (2026) conducted a case report in Recurrent acute myocarditis / Desmoplakin cardiomyopathy (n=1). Pathogenic partial deletion in the desmoplakin (DSP) gene was evaluated. A pathogenic partial deletion in the DSP gene was identified as the underlying cause of recurrent acute myocarditis in a 30-year-old woman, establishing a diagnosis of desmoplakin cardiomyopathy.
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