ArticleBMC medical genetics2017
Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.
Article in BMC medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 22 citations in OpenAlex.
- Integrative genomic and literature assessment of desmoglein 2-related arrhythmogenic cardiomyopathy with Italian cohort validation.Communications medicine · 2026Article
- A Novel Homozygous Mutation of the Desmoplakin Gene With Biventricular Arrhythmogenic Cardiomyopathy.JACC. Case reports · 2025Article
- Case report: Severe arrhythmogenic cardiomyopathy in a young girl with compound heterozygousFrontiers in genetics · 2025Article
- Case report: Additional variants induced sudden cardiac death among pediatric ACM withFrontiers in genetics · 2024Article
- Postmortem genetic analysis of 17 sudden cardiac deaths identified nonsense and frameshift variants in two cases of arrhythmogenic cardiomyopathy.International journal of legal medicine · 2023Article
- Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling.Cardiovascular diagnosis and therapy · 2021Article
- Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later.Journal of personalized medicine · 2021Article
- Article
- Outcomes and management of arrhythmogenic right ventricular cardiomyopathy in pregnancy: a case report.European heart journal. Case reports · 2019Article
- Intercalated discs: cellular adhesion and signaling in heart health and diseases.Heart failure reviews · 2019Review
- Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database.European journal of human genetics : EJHG · 2018Article
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Authors and funding
9 authors at 4 institutions in 1 country.
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Abstract
backgroundArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease, involving changes in ventricular myocardial tissue and leading to fatal arrhythmias. Mutations in desmosomal genes are thought to be the main cause of ARVC. However, the exact molecular genetic etiology of the disease still remains largely inconclusive, and this along with large variabilities in clinical manifestations complicate clinical diagnostics. CASE PRESENTATION: We report two families (n = 20) in which a desmoglein-2 (DSG2) missense variant c.1003A > G, p.(Thr335Ala) was discovered in the index patients using next-generation sequencing panels. The presence of this variant in probands' siblings and children was studied by Sanger sequencing. Five homozygotes and nine heterozygotes were found with the mutation. Participants were evaluated clinically where possible, and available medical records were obtained. All patients homozygous for the variant fulfilled the current diagnostic criteria for ARVC, whereas none of the heterozygous subjects had symptoms suggestive of ARVC or other cardiomyopathies.
conclusionsThe homozygous DSG2 variant c.1003A > G co-segregated with ARVC, indicating autosomal recessive inheritance and complete penetrance. More research is needed to establish a detailed understanding of the relevance of rare variants in ARVC associated genes, which is essential for informative genetic counseling and rational family member testing.
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