ArticleProgress in pediatric cardiology2021
The clinical utility of pediatric cardiomyopathy genetic testing: From diagnosis to a precision medicine-based approach to care.
Article in Progress in pediatric cardiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 15 citations in OpenAlex.
- Dilated cardiomyopathy evaluation with Imagenomics: combining multimodal cardiovascular imaging and genetics.ESC heart failure · 2025Review
- Yield of Genetic Testing in Pediatric Cardiomyopathies: Implications for Novel Therapeutic Options.Molecular genetics & genomic medicine · 2025Article
- Novel Mutation Lys30Glu in theInternational journal of molecular sciences · 2024Article
- Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future.Biomedicines · 2024Review
- Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice.Circulation. Heart failure · 2023Article
- Article
- Evaluating the Utility of a New Pathogenicity Predictor for Pediatric Cardiomyopathy.Human mutation · 2023Article
- Symptomatic presentation influences outcomes in pediatric restrictive cardiomyopathy.Frontiers in pediatrics · 2023Article
- Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.Molecular diagnosis & therapy · 2022Article
- Sudden Cardiac Arrest in the Paediatric Population.CJC pediatric and congenital heart disease · 2022Review
- Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.Journal of cardiovascular development and disease · 2021Article
- Advances and unmet needs in pharmacologic therapy for pediatric heart failure: Insights from the 2025 International Society for Heart and Lung Transplantation Guidelines.Annals of pediatric cardiologyArticle
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
backgroundPediatric-onset cardiomyopathies are rare yet cause significant morbidity and mortality in affected children. Genetic testing has a major role in the clinical evaluation of pediatric-onset cardiomyopathies, and identification of a variant in an associated gene can be used to confirm the clinical diagnosis and exclude syndromic causes that may warrant different treatment strategies. Further, risk-predictive testing of first-degree relatives can assess who is at-risk of disease and requires continued clinical follow-up. AIM OF REVIEW: In this review, we seek to describe the current role of genetic testing in the clinical diagnosis and management of patients and families with the five major cardiomyopathies. Further, we highlight the ongoing development of precision-based approaches to diagnosis, prognosis, and treatment. KEY SCIENTIFIC CONCEPTS OF REVIEW: Emerging application of genotype-phenotype correlations opens the door for genetics to guide a precision medicine-based approach to prognosis and potentially for therapies. Despite advances in our understanding of the genetic etiology of cardiomyopathy and increased accessibility of clinical genetic testing, not all pediatric cardiomyopathy patients have a clear genetic explanation for their disease. Expanded genomic studies are needed to understand the cause of disease in these patients, improve variant classification and genotype-driven prognostic predictions, and ultimately develop truly disease preventing treatment.
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