Desmoplakin Gene Mutation Is Associated With Myocarditis-Like Presentation of Arrhythmogenic Cardiomyopathy | Synapse
April 23, 2026Open Access
Desmoplakin Gene Mutation Is Associated With Myocarditis-Like Presentation of Arrhythmogenic Cardiomyopathy
Key Points
This study investigates the association between desmoplakin gene mutations and myocarditis-like symptoms in arrhythmogenic cardiomyopathy.
Analyzed genetic data from patients with arrhythmogenic cardiomyopathy.
Evaluated clinical presentations and symptoms, focusing on myocarditis-like features.
Patients with desmoplakin mutations exhibited myocarditis-like symptoms in 75% of cases.
Frequency of arrhythmias was significantly higher in subjects with gene mutations (OR 3.5, 95% CI 1.5-7.8, p=0.01).
Expert Takes2 quotes
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“We're often diagnosing patients with myocarditis but if we learn that they have this genetic mutation, our antenna is raised that these could potentially be very sick cardiomyopathic hearts.”
Warren A. Zuckerman, Pediatric cardiologist, NewYork-Presbyterian and ColumbiaNewYork-Presbyterian/Columbiaauto_pipelineView source