ArticleJournal of the American Heart Association2020
Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification.
Article in Journal of the American Heart Association, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28 citing papers in PubMed, 41 citations in OpenAlex.
- Gene-specific reclassification patterns of variants in hypertrophic cardiomyopathy.European journal of human genetics : EJHG · 2026Article
- Recommendations for return of secondary genomic findings in observational cohort studies.Nature genetics · 2026Review
- Knowledge graph visualization and retrospective analysis of genetic research on pediatric cardiomyopathy (2000-2024).Frontiers in cardiovascular medicine · 2026Article
- A novel Notch and WNT signaling mechanism contribute to paediatric DCM: a pathway to new therapeutics.bioRxiv : the preprint server for biology · 2025Article
- Appropriate time interval to update ambiguous genetic diagnosis in inherited arrhythmogenic syndromes.iScience · 2025Article
- Genetic Testing Resources and Practice Patterns Among Pediatric Cardiomyopathy Programs.Pediatric cardiology · 2025Article
- Genomics of pediatric cardiomyopathy.Pediatric research · 2025Review
- Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.Animal cells and systems · 2025Review
- Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing.Journal of medical genetics · 2024Article
- Clinical Features and Outcomes of PediatricJournal of the American Heart Association · 2024Article
- Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy.International journal of molecular sciences · 2024Article
- The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.PloS one · 2024Article
- Variant reclassification and recontact research: A scoping review.Genetics in medicine open · 2024Article
- Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.BMC medical genomics · 2023Article
- [Clinical and genetic characteristics of children with primary dilated cardiomyopathy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Approaches to Genetic Screening in Cardiomyopathies: Practical Guidance for Clinicians.JACC. Heart failure · 2023Review
- A Missense Variation inInternational journal of molecular sciences · 2023Article
- KLF13 Loss-of-Function Mutations Underlying Familial Dilated Cardiomyopathy.Journal of the American Heart Association · 2022Article
- Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy: Genotype and Phenotype Overview.Neurology. Genetics · 2022Article
- LMOD2-related dilated cardiomyopathy presenting in late infancy.American journal of medical genetics. Part A · 2022Article
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5 authors at 2 institutions in 1 country.
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Abstract
Background Genetic testing in pediatric primary dilated cardiomyopathy (DCM) patients has identified numerous disease-causing variants, but few studies have evaluated genetic testing outcomes in this population in the context of patient and familial clinical data or assessed the clinical implications of temporal changes in genetic testing results. Methods and Results We performed a retrospective analysis of all patients with primary DCM who presented to our institution between 2008 and 2018. Variants identified by genetic testing were reevaluated for pathogenicity on the basis of current guidelines for variant classification. A total of 73 patients with primary DCM presented to our institution and 63 (86%) were probands that underwent cardiomyopathy-specific gene testing. A disease-causing variant was identified in 19 of 63 (30%) of cases, with at least 9/19 (47%) variants occurring de novo. Positive family history was not associated with identification of a causal variant. Reclassification of variants resulted in the downgrading of a large proportion of variants of uncertain significance and did not identify any new disease-causing variants. Conclusions Clinical genetic testing identifies a causal variant in one third of pediatric patients with primary DCM. Variant reevaluation significantly decreased the number of variants of uncertain significance, but a large burden of variants of uncertain significance remain. These results highlight the need for periodic reanalysis of genetic testing results, additional investigation of genotype-phenotype correlations in DCM through large, multicenter genetic studies, and development of improved tools for functional characterization of variants of uncertain significance.
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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 Socratic graph.