SynthesisScientific reports2017
Genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis.
Synthesis in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 51 citations in OpenAlex.
- Disease penetrance and phenotypic spectrum of desmoplakin variant carriers in the population.Heart rhythm · 2026Article
- Review
- Molecular Pathogenesis of Arrhythmogenic Cardiomyopathy: Mechanisms and Therapeutic Perspectives.Biomolecules · 2025Review
- Tailored therapeutics for cardiomyopathies.Nature reviews. Cardiology · 2025Review
- Prevalence and Correlates of Anti-DSG2 Antibodies in Arrhythmogenic Right Ventricular Cardiomyopathy and Myocarditis: Immunological Insights from a Multicenter Study.Journal of clinical medicine · 2024Article
- Arrhythmogenic Cardiomyopathy: Current Updates and Future Challenges.Reviews in cardiovascular medicine · 2024Review
- Desmoplakin-Specific ARVC Risk Scores: Deep Phenotyping to Drive Precision Medicine.JACC. Advances · 2024Article
- Krüpple-like factors in cardiomyopathy: emerging player and therapeutic opportunities.Frontiers in cardiovascular medicine · 2024Review
- The role of genetic testing in suspected fulminant myocarditis: A case report.Molecular genetics and metabolism reports · 2023Article
- Accurate Classification of Non-ischemic Cardiomyopathy.Current cardiology reports · 2023Review
- Cheek-Pro-Heart: What Can the Buccal Mucosa Do for Arrhythmogenic Cardiomyopathy?Biomedicines · 2023Review
- Myocardial Inflammation as a Manifestation of Genetic Cardiomyopathies: From Bedside to the Bench.Biomolecules · 2023Review
- Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator.European heart journal · 2022Article
- Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy.BMC cardiovascular disorders · 2022Article
- The clinical utility of pediatric cardiomyopathy genetic testing: From diagnosis to a precision medicine-based approach to care.Progress in pediatric cardiology · 2021Article
- Emerging concepts in arrhythmogenic dilated cardiomyopathy.Heart failure reviews · 2021Review
- Cardiac Biomarkers and Autoantibodies in Endurance Athletes: Potential Similarities with Arrhythmogenic Cardiomyopathy Pathogenic Mechanisms.International journal of molecular sciences · 2021Review
- Histopathological Features and Protein Markers of Arrhythmogenic Cardiomyopathy.Frontiers in cardiovascular medicine · 2021Review
- State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy.International journal of molecular sciences · 2020Review
- Established and Emerging Mechanisms in the Pathogenesis of Arrhythmogenic Cardiomyopathy: A Multifaceted Disease.International journal of molecular sciences · 2020Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The relationship between clinical phenotypes and desmosomal gene mutations in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) is poorly characterized. Therefore, we performed a meta-analysis to explore the genotype-phenotype relationship in patients with ARVC. Any studies reporting this genotype-phenotype relationship were included. In total, 11 studies involving 1,113 patients were included. The presence of desmosomal gene mutations was associated with a younger onset age of ARVC (32.7 ± 15.2 versus 43.2 ± 13.3 years; P = 0.001), a higher incidence of T wave inversion in V
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.