{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T08:16:52Z","timestamp":1769847412672,"version":"3.49.0"},"reference-count":42,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2026,1]]},"DOI":"10.1016\/j.cca.2025.120725","type":"journal-article","created":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T15:52:49Z","timestamp":1763653969000},"page":"120725","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Genotypic and phenotypic characterization of critical pediatric cardiomyopathy: A 20-patient cohort study"],"prefix":"10.1016","volume":"580","author":[{"given":"Yuanyuan","family":"Xu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoling","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaping","family":"Liang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanyan","family":"Chai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao","family":"Dai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenjia","family":"Tong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danqun","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2025.120725_bb0005","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1038\/s41436-018-0039-z","article-title":"Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)","volume":"20","author":"Hershberger","year":"2018","journal-title":"Genet. Med."},{"key":"10.1016\/j.cca.2025.120725_bb0010","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.1007\/s00431-023-05358-6","article-title":"The clinical profile, genetic basis and survival of childhood cardiomyopathy: a single-center retrospective study","volume":"183","author":"Yuan","year":"2024","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.cca.2025.120725_bb0015","doi-asserted-by":"crossref","DOI":"10.3389\/fcvm.2023.1173015","article-title":"Global burden of myocarditis and cardiomyopathy in children and prediction for 2035 based on the global burden of disease study 2019","volume":"10","author":"Ba","year":"2023","journal-title":"Front. Cardiovasc. Med."},{"key":"10.1016\/j.cca.2025.120725_bb0020","doi-asserted-by":"crossref","first-page":"e9","DOI":"10.1161\/CIR.0000000000000682","article-title":"Cardiomyopathy in children: classification and diagnosis: a scientific statement from the American Heart Association","volume":"140","author":"Lipshultz","year":"2019","journal-title":"Circulation"},{"key":"10.1016\/j.cca.2025.120725_bb0025","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1136\/jmedgenet-2012-101270","article-title":"Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing","volume":"50","author":"Lopes","year":"2013","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.cca.2025.120725_bb0030","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1016\/S0140-6736(12)60397-3","article-title":"Hypertrophic cardiomyopathy","volume":"381","author":"Maron","year":"2013","journal-title":"Lancet"},{"key":"10.1016\/j.cca.2025.120725_bb0035","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1038\/s41588-025-02087-4","article-title":"Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy","volume":"57","author":"Tadros","year":"2025","journal-title":"Nat. Genet."},{"key":"10.1016\/j.cca.2025.120725_bb0040","doi-asserted-by":"crossref","first-page":"1715","DOI":"10.1056\/NEJM199912023412302","article-title":"Missense mutations in the rod domain of the Lamin a\/C gene as causes of dilated cardiomyopathy and conduction-system disease","volume":"341","author":"Fatkin","year":"1999","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.cca.2025.120725_bb0045","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1046\/j.0022-202x.2001.01664.x","article-title":"Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility\/woolly hair syndrome","volume":"118","author":"Whittock","year":"2002","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.cca.2025.120725_bb0050","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1002\/ehf2.12420","article-title":"Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy","volume":"6","author":"J\u00e4\u00e4skel\u00e4inen","year":"2019","journal-title":"ESC. Heart. Fail."},{"issue":"2025","key":"10.1016\/j.cca.2025.120725_bb0055","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1038\/s41390-025-03819-2","article-title":"Genomics of pediatric cardiomyopathy","volume":"97","author":"Lee","year":"2025","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.cca.2025.120725_bb0060","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1186\/s13073-024-01390-9","article-title":"Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery","volume":"16","author":"Josephs","year":"2024","journal-title":"Genome Med."},{"key":"10.1016\/j.cca.2025.120725_bb0065","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1093\/eurheartj\/ehae109","article-title":"Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational research programme cardiomyopathy and myocarditis registry","volume":"45","author":"Kaski","year":"2024","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.cca.2025.120725_bb0070","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1186\/s40246-024-00702-9","article-title":"An analysis of mitochondrial variation in cardiomyopathy patients from the 100,000 genomes cohort: m.4300A>G as a cause of genetically elusive hypertrophic cardiomyopathy","volume":"18","author":"Lopes","year":"2024","journal-title":"Hum. Genomics"},{"key":"10.1016\/j.cca.2025.120725_bb0075","doi-asserted-by":"crossref","DOI":"10.1161\/JAHA.120.017731","article-title":"Genetic causes of cardiomyopathy in children: first results from the pediatric cardiomyopathy genes study","volume":"10","author":"Ware","year":"2021","journal-title":"J. Am. Heart Assoc."},{"key":"10.1016\/j.cca.2025.120725_bb0080","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.cca.2025.120725_bb0085","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1002\/humu.23626","article-title":"Recommendations for interpreting the loss of function PVS1 ACMG\/AMP variant criterion","volume":"39","author":"Abou Tayoun","year":"2018","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.cca.2025.120725_bb0090","doi-asserted-by":"crossref","first-page":"2163","DOI":"10.1016\/j.ajhg.2022.10.013","article-title":"Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3\/BP4 criteria","volume":"109","author":"Pejaver","year":"2022","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.cca.2025.120725_bb0095","doi-asserted-by":"crossref","DOI":"10.1016\/j.ijcard.2024.132729","article-title":"Clinical impact of genetic testing in a large cohort of pediatric cardiomyopathies","volume":"419","author":"Ader","year":"2025","journal-title":"Int. J. Cardiol."},{"key":"10.1016\/j.cca.2025.120725_bb0100","doi-asserted-by":"crossref","DOI":"10.1136\/bmjpo-2023-002024","article-title":"Cardiomyopathy in children: a single-Centre, retrospective study of genetic and clinical characteristics","volume":"8","author":"Sun","year":"2024","journal-title":"BMJ. Paediatr. Open."},{"key":"10.1016\/j.cca.2025.120725_bb0105","first-page":"1495","article-title":"Compound heterozygous missense variants in RPL3L genes associated with severe forms of dilated cardiomyopathy: a case report and literature review","volume":"9","author":"Das","year":"2022","journal-title":"Children (Basel)"},{"key":"10.1016\/j.cca.2025.120725_bb0110","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1007\/s00439-020-02188-6","article-title":"Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis","volume":"139","author":"Ganapathi","year":"2020","journal-title":"Hum. Genet."},{"key":"10.1016\/j.cca.2025.120725_bb0115","first-page":"65","article-title":"Further evidence of autosomal recessive inheritance of RPL3L pathogenic variants with rapidly progressive neonatal dilated cardiomyopathy","volume":"9","author":"Nannapaneni","year":"2022","journal-title":"J. Cardiovasc. Dev. Dis."},{"key":"10.1016\/j.cca.2025.120725_bb0120","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1186\/s12920-023-01567-y","article-title":"Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review","volume":"16","author":"Yang","year":"2023","journal-title":"BMC Med. Genomics"},{"key":"10.1016\/j.cca.2025.120725_bb0125","article-title":"Novel compound heterozygous missense variants in RPL3L gene associated with neonatal dilated cardiomyopathy","volume":"17","author":"Zhang","year":"2025","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.cca.2025.120725_bb0130","article-title":"Recessive but damaging alleles of muscle-specific ribosomal protein gene RPL3L drive neonatal dilated cardiomyopathy","author":"Murphy","year":"2025","journal-title":"bioRxiv"},{"key":"10.1016\/j.cca.2025.120725_bb0135","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.molcel.2007.02.015","article-title":"Ribosomal protein L3: gatekeeper to the a site","volume":"25","author":"Meskauskas","year":"2007","journal-title":"Mol. Cell"},{"key":"10.1016\/j.cca.2025.120725_bb0140","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1056\/NEJMoa1110186","article-title":"Truncations of titin causing dilated cardiomyopathy","volume":"366","author":"Herman","year":"2012","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.cca.2025.120725_bb0145","doi-asserted-by":"crossref","first-page":"3250","DOI":"10.1093\/brain\/awm271","article-title":"Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients","volume":"130","author":"Kley","year":"2007","journal-title":"Brain"},{"key":"10.1016\/j.cca.2025.120725_bb0150","doi-asserted-by":"crossref","first-page":"2440","DOI":"10.1016\/j.jacc.2016.09.927","article-title":"Truncating FLNC mutations are associated with high-risk dilated and arrhythmogenic cardiomyopathies","volume":"68","author":"Ortiz-Genga","year":"2016","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.cca.2025.120725_bb0155","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1016\/j.jacc.2022.07.023","article-title":"Natural history of MYH7-related dilated cardiomyopathy","volume":"80","author":"de Frutos","year":"2022","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.cca.2025.120725_bb0160","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1038\/s41439-018-0023-9","article-title":"Sensorineural hearing loss and mild cardiac phenotype caused by an EYA4 mutation","volume":"5","author":"Abe","year":"2018","journal-title":"Hum. Genome. Var."},{"key":"10.1016\/j.cca.2025.120725_bb0165","doi-asserted-by":"crossref","first-page":"6213","DOI":"10.1038\/s41598-020-63256-5","article-title":"Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants","volume":"10","author":"Mor\u00edn","year":"2020","journal-title":"Sci. Rep."},{"key":"10.1016\/j.cca.2025.120725_bb0170","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2020.103997","article-title":"Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease","volume":"63","author":"Su","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.cca.2025.120725_bb0175","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1536\/ihj.19-241","article-title":"The novel compound heterozygous mutations of GAA gene in mainland Chinese patient with classic infantile-onset Pompe disease","volume":"61","author":"Li","year":"2020","journal-title":"Int. Heart J."},{"key":"10.1016\/j.cca.2025.120725_bb0180","first-page":"189","article-title":"GAA gene variants and genotype-phenotype correlations in patients with glycogen storage disease type II","volume":"59","author":"Huang","year":"2021","journal-title":"Chin. J. Pediatr."},{"key":"10.1016\/j.cca.2025.120725_bb0185","doi-asserted-by":"crossref","first-page":"2816","DOI":"10.1093\/nar\/gkab104","article-title":"The human tRNA taurine modification enzyme GTPBP3 is an active GTPase linked to mitochondrial diseases","volume":"49","author":"Peng","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.cca.2025.120725_bb0190","doi-asserted-by":"crossref","first-page":"7346","DOI":"10.1093\/nar\/gku390","article-title":"A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs","volume":"42","author":"Suzuki","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.cca.2025.120725_bb0195","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1016\/j.ajhg.2014.10.017","article-title":"Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy","volume":"95","author":"Kopajtich","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.cca.2025.120725_bb0200","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2021.611226","article-title":"Novel mutations in the GTPBP3 gene for mitochondrial disease and characteristics of related phenotypic spectrum: the first three cases from China","volume":"12","author":"Yan","year":"2021","journal-title":"Front. Genet."},{"key":"10.1016\/j.cca.2025.120725_bb0205","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.118.002097","article-title":"Beyond gene panels: whole exome sequencing for diagnosis of congenital heart disease","volume":"11","author":"Paige","year":"2018","journal-title":"Circ. Genom. Precis. Med."},{"key":"10.1016\/j.cca.2025.120725_bb0210","article-title":"Diagnostic yield of genome sequencing versus exome sequencing in pediatric patients with rare phenotypes: a systematic review and meta-analysis","volume":"16","author":"Albuquerque","year":"2025","journal-title":"Am. J. Med. Genet. A"}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898125006047?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898125006047?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T18:00:10Z","timestamp":1769796010000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898125006047"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":42,"alternative-id":["S0009898125006047"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2025.120725","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genotypic and phenotypic characterization of critical pediatric cardiomyopathy: A 20-patient cohort study","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2025.120725","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"120725"}}