ArticleProgress in pediatric cardiology2011
Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.
Article in Progress in pediatric cardiology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.
- Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals.Clinical research in cardiology : official journal of the German Cardiac Society · 2017Pooled it
- Clinically Actionable Hypertrophic Cardiomyopathy Genes in South Asian Indian Patients.Journal of the American Heart Association · 2025Article
- SCN5A Cardiomyopathy: from Ion Channel Dysfunction To Clinical Disease.Current cardiology reports · 2025Review
- A Unique Case of a Child with Two Rare Hereditary Diseases: Familial Dilated Cardiomyopathy and Arterial Calcification.International journal of molecular sciences · 2025Article
- Novel Mutation Lys30Glu in theInternational journal of molecular sciences · 2024Article
- Pediatric dilated cardiomyopathy: a review of current clinical approaches and pathogenesis.Frontiers in pediatrics · 2024Review
- Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.Circulation. Genomic and precision medicine · 2022Observational
- Article
- Pediatric and adult dilated cardiomyopathy are distinguished by distinct biomarker profiles.Pediatric research · 2022Article
- A Comprehensive Outlook on Dilated Cardiomyopathy (DCM): State-Of-The-Art Developments with Special Emphasis on OMICS-Based Approaches.Journal of cardiovascular development and disease · 2022Review
- Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family.BMC medical genomics · 2022Article
- Significance of α-Myosin Heavy Chain (Journal of cardiovascular development and disease · 2022Article
- RBM20 phosphorylation and its role in nucleocytoplasmic transport and cardiac pathogenesis.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2022Article
- Presenilin 1 is a direct regulator of the cardiac sarco/endoplasmic reticulum calcium pump.Cell calcium · 2021Article
- The Complex and Diverse Genetic Architecture of Dilated Cardiomyopathy.Circulation research · 2021Review
- Malignant Arrhythmogenic Role Associated withJournal of personalized medicine · 2021Review
- A missense mutation in the RSRSP stretch of Rbm20 causes dilated cardiomyopathy and atrial fibrillation in mice.Scientific reports · 2020Article
- New Insights in RBM20 Cardiomyopathy.Current heart failure reports · 2020Review
- 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
- Structural basis of UCUU RNA motif recognition by splicing factor RBM20.Nucleic acids research · 2020Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Dilated cardiomyopathy (DCM) in infants and children can be partially explained by genetic cause but the catalogue of known genes is limited. We reviewed our database of 41 cases diagnosed with DCM before 18 years of age who underwent detailed clinical and genetic evaluation, and summarize here the evidence for mutations causing DCM in these cases from 15 genes (PSEN1, PSEN2, CSRP3, LBD3, MYH7, SCN5A, TCAP, TNNT2, LMNA, MYBPC3, MYH6, TNNC1, TNNI3, TPM1, and RBM20). Thirty-five of the 41 pediatric cases had relatives with adult-onset DCM. More males (66%) were found among children diagnosed after 1 year of age with DCM. Nineteen mutations in 9 genes were identified among 15 out of 41 patients; 3 patients (diagnosed at ages 2 weeks, 9 and 13 years) had multiple mutations. Of the 19 mutations identified in 12 families, mutations in TPM1 (32%) and TNNT2 (21%) were the most commonly found. Of the 6 patients diagnosed before 1 year of age, 3 had mutations in TPM1 (including a set of identical twins), 1 in TNNT2, 1 in MYH7, and 1 with multiple mutations (MYH7 and TNNC1). Most DCM was accompanied by advanced heart failure and need for cardiac transplantation. We conclude that in some cases pediatric DCM has a genetic basis, which is complicated by allelic and locus heterogeneity as seen in adult-onset DCM. We suggest that future prospective comprehensive family-based genetic studies of pediatric DCM are indicated to further define mutation frequencies in known genes and to discover novel genetic cause.
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Registered trials
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