Academic Journal
Infantile dilated cardiomyopathy caused by RPL3L gene mutation: A case report.
| Τίτλος: | Infantile dilated cardiomyopathy caused by RPL3L gene mutation: A case report. |
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| Συγγραφείς: | Mai B; Pediatric Intensive Care Unit, Hainan Women and Children's Medical Center, China., Lei Z; Pediatric Intensive Care Unit, Hainan Women and Children's Medical Center, China., Qin S; Pediatric Intensive Care Unit, Hainan Women and Children's Medical Center, China., Yang G; Pediatric Intensive Care Unit, Hainan Women and Children's Medical Center, China., Zhu N; Pediatric Intensive Care Unit, Hainan Women and Children's Medical Center, China., Lin W; Department of Ultrasound, Hainan Women and Children's Medical Center, China. |
| Πηγή: | The Journal of international medical research [J Int Med Res] 2026 May; Vol. 54 (5), pp. 3000605261447152. Date of Electronic Publication: 2026 May 19. |
| Τύπος έκδοσης: | Journal Article; Case Reports |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Sage Publications Country of Publication: England NLM ID: 0346411 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-2300 (Electronic) Linking ISSN: 03000605 NLM ISO Abbreviation: J Int Med Res Subsets: MEDLINE |
| Imprint Name(s): | Publication: Nov. 2012- : London : Sage Publications Original Publication: Northampton, Eng., Cambridge Medical Publications ltd. |
| Ιατρικοί όροι (MeSH): | Cardiomyopathy, Dilated*/genetics , Cardiomyopathy, Dilated*/drug therapy , Cardiomyopathy, Dilated*/diagnosis , Cardiomyopathy, Dilated*/diagnostic imaging , Ribosomal Proteins*/genetics , Mutation*, Humans ; Female ; Infant ; Ribosomal Protein L3 ; Exome Sequencing ; Pedigree ; Male |
| Περίληψη: | 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>A (p.Q167=) inherited from the father and c.322G>A (p.E108K) from the mother. Drug therapy improved the patient's 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 RPL3L-associated cardiomyopathy. |
| Contributed Indexing: | Keywords: Ribosomal protein L3-like gene; case report; drug therapy; infantile dilated cardiomyopathy; whole-exome sequencing |
| Substance Nomenclature: | 0 (Ribosomal Proteins) 0 (RPL3 protein, human) 0 (Ribosomal Protein L3) |
| Entry Date(s): | Date Created: 20260519 Date Completed: 20260716 Latest Revision: 20260716 |
| Update Code: | 20260717 |
| PubMed Central ID: | PMC13187370 |
| DOI: | 10.1177/03000605261447152 |
| PMID: | 42156347 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 1473-2300 |
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| DOI: | 10.1177/03000605261447152 |