ArticleJournal of the American College of Cardiology2011
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.
Article in Journal of the American College of Cardiology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 papers, 1 of them a synthesis that pooled it.
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Who cites it
113 citing papers in PubMed, 1 synthesis or guideline pooled it, 301 citations in OpenAlex.
- Arrhythmogenic cardiomyopathy diagnosis and management: a systematic review of clinical practice guidelines and recommendations with insights for future research.European heart journal. Quality of care & clinical outcomes · 2025Pooled it
- Review
- Integrative genomic and literature assessment of desmoglein 2-related arrhythmogenic cardiomyopathy with Italian cohort validation.Communications medicine · 2026Article
- Novel PKP2 compound heterozygous mutations causing neonatal early-onset arrhythmogenic cardiomyopathy: insights into the synergistic pathogenicity of biallelic inactivation.Functional & integrative genomics · 2026Article
- Genetics of Sudden Cardiac Death.Diseases (Basel, Switzerland) · 2025Review
- Dilated Cardiomyopathy: A Genetic Journey from Past to Future.International journal of molecular sciences · 2024Review
- Recent advances in cardiovascular disease research driven by metabolomics technologies in the context of systems biology.npj metabolic health and disease · 2024Review
- Endurance Training Provokes Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Heterozygous Desmoglein-2 Mutants: Alleviation by Preload Reduction.Biomedicines · 2024Article
- Case report: Additional variants induced sudden cardiac death among pediatric ACM withFrontiers in genetics · 2024Article
- Article
- The Novel Variant NP_00454563.2 (Genes · 2023Observational
- Role of non-coding variants in cardiovascular disease.Journal of cellular and molecular medicine · 2023Review
- Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (Circulation. Genomic and precision medicine · 2023Review
- The phenotypic and genetic features of arrhythmogenic cardiomyopathy in the pediatric population.Frontiers in cardiovascular medicine · 2023Article
- The Many Faces of Arrhythmogenic Cardiomyopathy: An Overview.The application of clinical genetics · 2023Review
- Alteration in tyrosine phosphorylation of cardiac proteome and EGFR pathway contribute to hypertrophic cardiomyopathy.Communications biology · 2022Article
- HumanizedCells · 2022Article
- Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.Human mutation · 2022Article
- Genetic predisposition study of heart failure and its association with cardiomyopathy.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2022Review
- Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis.Nature communications · 2021Observational
53 more citing papers are in PubMed but not listed here.
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17 authors at 6 institutions in 2 countries.
Funding
Abstract
objectivesThe aims of this study were to determine the spectrum and prevalence of "background genetic noise" in the arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC) genetic test and to determine genetic associations that can guide the interpretation of a positive test result.
backgroundARVC is a potentially lethal genetic cardiovascular disorder characterized by myocyte loss and fibrofatty tissue replacement of the right ventricle. Genetic variation among the ARVC susceptibility genes has not been systematically examined, and little is known about the background noise associated with the ARVC genetic test.
methodsUsing direct deoxyribonucleic acid sequencing, the coding exons/splice junctions of PKP2, DSP, DSG2, DSC2, and TMEM43 were genotyped for 93 probands diagnosed with ARVC from the Netherlands and 427 ostensibly healthy controls of various ethnicities. Eighty-two additional ARVC cases were obtained from published reports, and additional mutations were included from the ARVD/C Genetic Variants Database.
resultsThe overall yield of mutations among ARVC cases was 58% versus 16% in controls. Radical mutations were hosted by 0.5% of control individuals versus 43% of ARVC cases, while 16% of controls hosted missense mutations versus a similar 21% of ARVC cases. Relative to controls, mutations in cases occurred more frequently in non-Caucasians, localized to the N-terminal regions of DSP and DSG2, and localized to highly conserved residues within PKP2 and DSG2.
conclusionsThis study is the first to comprehensively evaluate genetic variation in healthy controls for the ARVC susceptibility genes. Radical mutations are high-probability ARVC-associated mutations, whereas rare missense mutations should be interpreted in the context of race and ethnicity, mutation location, and sequence conservation.
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