ArticleFrontiers in genetics2022
Case Report: A novel desmoplakin mutation in a taiwanese woman with familial dilated cardiomyopathy that necessitated heart transplantation.
Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 2 citations in OpenAlex.
- Familial Dilated Cardiomyopathy Associated with a Desmoplakin Variant: A Case Report.Acta Cardiologica Sinica · 2026Article
- FAMILIAL CARDIOMYOPATHY IN NIGERIA: A CASE REPORT.Annals of Ibadan postgraduate medicine · 2026Article
- Unveiling cellular mechanisms underlying MYZAP related dilated cardiomyopathy using patient specific hiPSC cardiomyocytes.Scientific reports · 2026Article
- Desmoplakin cardiomyopathy presenting as recurrent myocarditis with life-threatening arrhythmias in a young man: A case report and literature review.HeartRhythm case reports · 2025Article
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Authors and funding
6 authors at 2 institutions in 1 country.
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Abstract
Around one-third of patients diagnosed with idiopathic dilated cardiomyopathy (DCM) turn out to be familial cases, in only a few of which the identification of a pathogenic/likely pathogenic variant could be achieved. Cardiomyopathy caused by desmoplakin gene mutations represents a distinct form with a high prevalence of left ventricle involvement. We report a novel desmoplakin mutation carried by two individuals in a Taiwanese family, in which the proband recovered well after heart transplantation and under medical control, while her son had received an implantable cardioverter defibrillator and has been under guideline-directed medical therapy. The present study broadens the genetic spectrum of this disease entity and strengthens the notion that a detailed family history with genetic study contributes to the early detection and treatment of inherited diseases.
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