ArticleJACC. Case reports2025
A Novel Homozygous Mutation of the Desmoplakin Gene With Biventricular Arrhythmogenic Cardiomyopathy.
Article in JACC. Case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Genotype-phenotype correlations inFrontiers in cardiovascular medicine · 2026Article
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11 authors.
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Abstract
backgroundA 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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