Key result
Truncating desmoplakin variant linked to fatal myocarditis-like presentation with rapidly progressive HF and refractory VT.
Why the study?
Desmoplakin cardiomyopathy may present with a myocarditis-like phenotype, delaying diagnosis and risk stratification.
Case Report (n=1)
Desmoplakin cardiomyopathy can mimic acute myocarditis and carries substantial arrhythmic and heart failure risk, highlighting the importance of early genetic diagnosis.
Clinicians should consider genetic testing for desmoplakin variants in young adults with fulminant myocarditis-like failure; extends known lethal phenotypes but remains hypothesis-generating.
BACKGROUND: Desmoplakin (DSP) cardiomyopathy is an inherited cardiomyopathy that may present with a myocarditis-like phenotype, delaying diagnosis and risk stratification. CASE SUMMARY: A previously healthy 23-year-old man developed rapidly progressive heart failure following 2 months of intermittent fever. Evaluation revealed severe biventricular systolic dysfunction (left ventricular ejection fraction, 11%), ventricular ectopy with nonsustained ventricular tachycardia, and cardiac magnetic resonance showing extensive circumferential subepicardial ring-like fibrosis. Infectious, autoimmune, inflammatory, infiltrative, and toxic causes were excluded. Whole-exome sequencing identified a likely pathogenic truncating DSP variant (c.2521C>T; p.Gln841Ter). Despite guideline-directed therapy and anticoagulation for right ventricular thrombi, he developed refractory ventricular tachycardia and died of electrical storm. DISCUSSION: DSP cardiomyopathy can mimic acute myocarditis and carries substantial arrhythmic and heart failure risk. TAKE-HOME MESSAGES: Myocarditis-like presentations with ventricular arrhythmias should prompt evaluation for DSP cardiomyopathy. Early genetic diagnosis may facilitate timely arrhythmic and advanced heart failure risk stratification.
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Byreddi et al. (2026) conducted a case report in Desmoplakin (DSP) cardiomyopathy (n=1). Desmoplakin (DSP) variant (c.2521C>T; p.Gln841Ter) was evaluated on Clinical outcome. A truncating desmoplakin variant in a 23-year-old man caused a myocarditis-like presentation with rapidly progressive heart failure, culminating in refractory ventricular tachycardia and death.
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