{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T22:14:36Z","timestamp":1779401676057,"version":"3.53.1"},"reference-count":19,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:p>\n                    Ribosomal protein L3-like gene mutations have been implicated in early-onset severe dilated cardiomyopathy (OMIM #115200). This report describes an infant with dilated cardiomyopathy resulting from RPL3L gene mutations. A 2-month-old girl was admitted in June 2022 with poor appetite, breathlessness, and lethargy. Her brother had succumbed to fulminant cardiomyopathy and heart failure at the same age. Cardiac ultrasound revealed an enlarged left ventricle, moderate mitral valve regurgitation, and an ejection fraction of 31%. Chest X-ray revealed cardiac enlargement and pulmonary changes. Cardiac magnetic resonance imaging confirmed dilated cardiomyopathy with an enlarged left ventricle and reduced myocardial wall motion. Whole-exome sequencing identified two RPL3L mutations: c.501G&gt;A (p.Q167=) inherited from the father and c.322G&gt;A (p.E108K) from the mother. Drug therapy improved the patient\u2019s cardiac function, and she demonstrated normal cardiac function after 6 months. In this case, dilated cardiomyopathy was associated with two familial RPL3L gene mutations, consistent with a presumed autosomal recessive inheritance pattern previously described in\n                    <jats:italic toggle=\"yes\">RPL3L<\/jats:italic>\n                    -associated cardiomyopathy.\n                  <\/jats:p>","DOI":"10.1177\/03000605261447152","type":"journal-article","created":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T02:25:18Z","timestamp":1779243918000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Infantile dilated cardiomyopathy caused by RPL3L gene mutation: A case report"],"prefix":"10.1177","volume":"54","author":[{"given":"Biwei","family":"Mai","sequence":"first","affiliation":[{"name":"Pediatric Intensive Care Unit, Hainan Women and Children\u2019s Medical Center, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3506-6398","authenticated-orcid":false,"given":"Zhixian","family":"Lei","sequence":"additional","affiliation":[{"name":"Pediatric Intensive Care Unit, Hainan Women and Children\u2019s Medical Center, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanqing","family":"Qin","sequence":"additional","affiliation":[{"name":"Pediatric Intensive Care Unit, Hainan Women and Children\u2019s Medical Center, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guidan","family":"Yang","sequence":"additional","affiliation":[{"name":"Pediatric Intensive Care Unit, Hainan Women and Children\u2019s Medical Center, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naiyun","family":"Zhu","sequence":"additional","affiliation":[{"name":"Pediatric Intensive Care Unit, Hainan Women and Children\u2019s Medical Center, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanqian","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Ultrasound, Hainan Women and Children\u2019s Medical Center, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,5,19]]},"reference":[{"key":"e_1_3_10_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(16)31713-5"},{"key":"e_1_3_10_3_2","first-page":"e31111","article-title":"Dilated cardiomyopathy in children: early detection and treatment","volume":"14","author":"Mallavarapu A","year":"2022","unstructured":"Mallavarapu A, Taksande A. Dilated cardiomyopathy in children: early detection and treatment. Cureus 2022; 14: e31111.","journal-title":"Cureus"},{"key":"e_1_3_10_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-030-27371-2_2"},{"key":"e_1_3_10_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-020-02188-6"},{"key":"e_1_3_10_6_2","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2023.1054169"},{"key":"e_1_3_10_7_2","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 HG","year":"2022","unstructured":"Nannapaneni HG, Ghaleb S, Arya S, et\u00a0al. Further evidence of autosomal recessive inheritance of RPL3L pathogenic variants with rapidly progressive neonatal dilated cardiomyopathy. J Cardiovasc Dev Dis 2022; 9: 65.","journal-title":"J Cardiovasc Dev Dis"},{"key":"e_1_3_10_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_3_10_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/head.12246"},{"key":"e_1_3_10_10_2","first-page":"223","article-title":"Genes related to dilated cardiomyopathy in children","volume":"47","author":"Zhang Hui WB.","year":"2020","unstructured":"Zhang Hui WB. Genes related to dilated cardiomyopathy in children. Int J Pediatr 2020; 47: 223\u2013226.","journal-title":"Int J Pediatr"},{"key":"e_1_3_10_11_2","doi-asserted-by":"publisher","DOI":"10.4065\/76.10.1030"},{"key":"e_1_3_10_12_2","doi-asserted-by":"publisher","DOI":"10.21037\/cdt.2019.12.09"},{"key":"e_1_3_10_13_2","first-page":"124","article-title":"Genetic evaluation of pediatric cardiomyopathy","volume":"35","author":"Matsson H","year":"2020","unstructured":"Matsson H, Eason J, Book W. Genetic evaluation of pediatric cardiomyopathy. Curr Opin Cardiol 2020; 35: 124\u2013131.","journal-title":"Curr Opin Cardiol"},{"key":"e_1_3_10_14_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa021737"},{"key":"e_1_3_10_15_2","first-page":"a003616","article-title":"Compound heterozygous variants in RPL3L associated with severe dilated cardiomyopathy in two siblings","volume":"5","author":"Ganapathi M","year":"2019","unstructured":"Ganapathi M, Srivaths P, Zareba K. Compound heterozygous variants in RPL3L associated with severe dilated cardiomyopathy in two siblings. Cold Spring Harb Mol Case Stud 2019; 5: a003616.","journal-title":"Cold Spring Harb Mol Case Stud"},{"key":"e_1_3_10_16_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-023-01567-y"},{"key":"e_1_3_10_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.healun.2025.01.016"},{"key":"e_1_3_10_18_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0538"},{"key":"e_1_3_10_19_2","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 BB","year":"2022","unstructured":"Das BB, Gajula V, Arya S, et\u00a0al. Compound heterozygous missense variants in RPL3L genes associated with severe forms of dilated cardiomyopathy: a case report and literature review. Children (Basel) 2022; 9: 1495.","journal-title":"Children (Basel)"},{"key":"e_1_3_10_20_2","doi-asserted-by":"publisher","DOI":"10.1089\/nat.2020.0928"}],"container-title":["Journal of International Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605261447152","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/03000605261447152","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605261447152","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T21:16:21Z","timestamp":1779398181000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/03000605261447152"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5]]},"references-count":19,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1177\/03000605261447152"],"URL":"https:\/\/doi.org\/10.1177\/03000605261447152","relation":{},"ISSN":["0300-0605","1473-2300"],"issn-type":[{"value":"0300-0605","type":"print"},{"value":"1473-2300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5]]},"article-number":"03000605261447152"}}