A Novel Homozygous Mutation of the Desmoplakin Gene With Biventricular Arrhythmogenic Cardiomyopathy

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BACKGROUND: A 23-year-old male with arrhythmic syncope and a presumed diagnosis of COVID-19 myocarditis was ultimately diagnosed with biventricular arrhythmogenic cardiomyopathy based on cardiac magnetic resonance imaging (MRI) and genetic testing (next-generation sequencing). CASE SUMMARY: The patient presented with recurrent syncope, frequent ventricular ectopics, and reduced left ventricular ejection fraction. Cardiac MRI revealed biventricular dysfunction and nonischemic late gadolinium enhancement with ring-like pattern. Genetic analysis identified a novel homozygous desmoplakin (DSP) mutation. He was treated with heart failure therapy and received an implantable cardioverter-defibrillator due to high arrhythmic risk. Family screening revealed heterozygous carriers among his relatives. DISCUSSION: This case underscores the importance of integrating advanced imaging with genetic testing in early-onset cardiomyopathies and expands the phenotype of DSP-related disease.

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