{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T22:52:10Z","timestamp":1782859930833,"version":"3.54.5"},"reference-count":10,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2022,9,29]],"date-time":"2022-09-29T00:00:00Z","timestamp":1664409600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Whole exome sequencing has identified an infant girl with fulminant dilated cardiomyopathy (DCM), leading to severe acute heart failure associated with ribosomal protein large 3-like (RPL3L) gene pathologic variants. Other genetic tests for mitochondrial disorders by sequence analysis and deletion testing of the mitochondrial genome were negative. Secondary causes for DCM due to metabolic and infectious etiologies were ruled out. She required a Berlin-Excor left ventricular assist device due to worsening of her heart failure as a bridge to orthotopic heart transplantation. At three months follow-up after heart transplantation, she has been doing well. We reviewed the literature on published RPL3L-related DCM cases and their outcomes. Bi-allelic variants in RPL3L have been reported in only seven patients from four unrelated families in the literature. RPL3L is a newer and likely pathogenic gene associated with a severe form of early-onset dilated cardiomyopathy with poor prognosis necessitating heart transplantation.<\/jats:p>","DOI":"10.3390\/children9101495","type":"journal-article","created":{"date-parts":[[2022,9,29]],"date-time":"2022-09-29T21:03:10Z","timestamp":1664485390000},"page":"1495","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Compound Heterozygous Missense Variants in RPL3L Genes Associated with Severe Forms of Dilated Cardiomyopathy: A Case Report and Literature Review"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9530-8785","authenticated-orcid":false,"given":"Bibhuti B.","family":"Das","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Cardiology, Children\u2019s of Mississippi, University of Mississippi Medical Center, Jackson, MS 39216, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2786-0038","authenticated-orcid":false,"given":"Viswanath","family":"Gajula","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Critical Care, Children\u2019s of Mississippi, University of Mississippi Medical Center, Jackson, MS 39216, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7195-6067","authenticated-orcid":false,"given":"Sandeep","family":"Arya","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Critical Care, Children\u2019s of Mississippi, University of Mississippi Medical Center, Jackson, MS 39216, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary B.","family":"Taylor","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Critical Care, Children\u2019s of Mississippi, University of Mississippi Medical Center, Jackson, MS 39216, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1894","DOI":"10.1002\/jcp.25294","article-title":"Expression of muscle-specific ribosomal protein L3-like impairs myotube growth","volume":"231","author":"Chaillou","year":"2016","journal-title":"J. Cell Physiol."},{"key":"ref_2","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":"ref_3","doi-asserted-by":"crossref","unstructured":"Nannapaneni, H., Ghaleb, S., Arya, S., Gajula, V., Taylor, M.B., and Das, B.B. (2022). Further evidence of autosomal recessive inheritance of RPL3L pathologic variants with rapidly progressive neonatal dilated cardiomyopathy. J. Cardiovasc. Dev. Dis., 9.","DOI":"10.3390\/jcdd9030065"},{"key":"ref_4","unstructured":"(2022, August 16). The Genotype-Tissue Expression (GTEx) Project Was Supported by the Common Fund of the Office of the Director of the National Institutes of Health, and by NCI, NHGRI, NHLBI, NIDA, NIMH, and NINDS. Tissue Expression of RPL3L Gene. Available online: www.gtexportal.org."},{"key":"ref_5","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. 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Case Rep."}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/9\/10\/1495\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:41:57Z","timestamp":1760143317000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/9\/10\/1495"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,29]]},"references-count":10,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2022,10]]}},"alternative-id":["children9101495"],"URL":"https:\/\/doi.org\/10.3390\/children9101495","relation":{},"ISSN":["2227-9067"],"issn-type":[{"value":"2227-9067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,29]]}}}