ArticlePediatric cardiology2018
Genetic Testing in Pediatric Cardiomyopathy.
Article in Pediatric cardiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 33 citations in OpenAlex.
- Genomics of pediatric cardiomyopathy.Pediatric research · 2025Review
- Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy from Japanese cohorts.Scientific reports · 2024Article
- Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies.Scientific reports · 2024Review
- Caution in the use of sedation and endomyocardial biopsy for the management of pediatric acute heart failure caused by endocardial fibroelastosis.World journal of clinical cases · 2023Article
- Article
- Pathogenic Roles of Cardiac Fibroblasts in Pediatric Dilated Cardiomyopathy.Journal of the American Heart Association · 2023Article
- Spectrum and Outcome of Prenatally Diagnosed Fetal Primary Cardiomyopathies-A Twenty-Year Overview.Journal of clinical medicine · 2023Article
- Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.Circulation. Genomic and precision medicine · 2022Observational
- The genetic architecture of pediatric cardiomyopathy.American journal of human genetics · 2022Article
- Next-Generation Sequencing Reveals Novel Genetic Variants for Dilated Cardiomyopathy in Pediatric Chinese Patients.Pediatric cardiology · 2022Article
- Cascade health service use in family members following genetic testing in children: a scoping literature review.European journal of human genetics : EJHG · 2021Article
- The clinical utility of pediatric cardiomyopathy genetic testing: From diagnosis to a precision medicine-based approach to care.Progress in pediatric cardiology · 2021Article
- Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.Journal of the American Heart Association · 2021Article
- Amino Acid-Level Signal-to-Noise Analysis Aids in Pathogenicity Prediction of Incidentally IdentifiedCirculation. Genomic and precision medicine · 2021Article
- Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification.Journal of the American Heart Association · 2020Article
- Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing.Pediatric cardiology · 2020Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic testing is recommended in patients with dilated cardiomyopathy (DCM); however, limited studies demonstrate high yields of genetic testing in non-hypertrophic (HCM) patients. Furthermore, there is sparse genotype-phenotype data in pediatric DCM patients. We performed a retrospective review of 70 consecutive probands with cardiomyopathy (non-HCM) who underwent genetic evaluation. Mean age at presentation was 5.48 years. Echocardiography revealed mean ejection fraction of 32.4%. The LVEDd z score ranged from - 5.7 to + 15.9. Cardiomyopathy was classified as dilated in 56, 10 with non-compaction, 2 with restrictive, and 2 with ARVC. TTN gene mutations were the most common gene involved. Genetic testing was negative in 16/70 (23%) giving a yield of 77% including VUS. 33% (23/70) of probands had a positive family history among whom the diagnostic yield was 57% (13/23) for pathogenic mutations. Yield for positive genetic testing in the DCM with positive family history group was 9/18 (50%). There were 6 deaths (9%) and 26/70 (37%) underwent transplantation. More frequent cardiac transplantations (48 vs. 34%) and deaths (17 vs. 2%) were seen in mutation-positive vs. mutation-negative subgroups. This study demonstrates an increasing yield of genetic testing in DCM although with a high rate of VUS detection. Use of genetic information for better management and prognostication will require big data analysis.
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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 OpenQuestion graph.