ArticleESC heart failure2023
Left-dominant arrhythmogenic cardiomyopathy due to desmoplakin mutation: a case report.
Article in ESC heart failure, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 4 citations in OpenAlex.
- Recurrent myocarditis in a young female with a desmoplakin gene variant: a case report and literature review.Frontiers in cardiovascular medicine · 2026Article
- Broad Electrocardiogram Syndromes Spectrum: From Common Emergencies to Particular Electrical Heart Disorders-Part II.Diagnostics (Basel, Switzerland) · 2025Review
- Bioinformatics analysis of JUP in patients with acute myocardial infarction and its potential application in clinical prognostic evaluation.Frontiers in cardiovascular medicine · 2025Article
- Heterozygous desmoplakin (BMJ case reports · 2024Article
- Left-dominant arrhythmogenic cardiomyopathy due to desmoplakin mutation: a case report.ESC heart failure · 2023Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The case of a 49-year-old man with acute onset of heart failure is presented. The initial work-up showed a dilated cardiomyopathy with severely reduced left ventricular ejection fraction. In the differential diagnostic process, hypertensive, ischaemic, and valvular aetiologies were discarded. Subsequently, a cardiac magnetic resonance revealed global hypokinesis and inferior and anterior subepicardial fibrosis. Once differential diagnoses of subepicardial fibrosis (myocarditis, sarcoidosis, and Chagas disease) were discarded, a genetic panel was performed, resulting in a heterozygous mutation of desmoplakin (DSP) gene c.6697_6698del. A left-dominant DSP arrhythmogenic cardiomyopathy mutation was diagnosed. Structural myocardial abnormalities and ventricular arrhythmias characterize arrhythmogenic cardiomyopathy. Up to 50% of cases are associated with mutations in DSP genes (JUP, DSP, and PKP2). DSP is the fundamental component of the desmosome structure and provides structural support through intercellular adhesion. Therefore, when frequent differential diagnoses are discarded, genetic studies for dilated cardiomyopathy and DSP mutation should be considered.
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