Transcending Age Barriers: Successful Management of Pediatric Dilated Cardiomyopathy with Rare PLEKHM2 Mutation in an Adult Hospital.
| Title: | Transcending Age Barriers: Successful Management of Pediatric Dilated Cardiomyopathy with Rare PLEKHM2 Mutation in an Adult Hospital. |
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| Authors: | Bendayan S; Department of Internal Medicine, McGill University, Montreal, Quebec, Canada.; Ganni E; Department of Cardiology, McGill University, Montreal, Quebec, Canada.; Ordonez MV; Department of Cardiology, McGill University, Montreal, Quebec, Canada.; Bendayan E; Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada.; Cohen Y; Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada.; Samoukovic G; Department of Critical Care, McGill University, Montreal, Quebec, Canada.; Giannetti N; Department of Cardiology, McGill University, Montreal, Quebec, Canada. Electronic address: nadia.giannetti@mcgill.ca. |
| Source: | JACC. Case reports [JACC Case Rep] 2025 Mar 05; Vol. 30 (5), pp. 103023. |
| Publication Type: | Case Reports; Journal Article |
| Language: | English |
| Journal Info: | Publisher: Elsevier Inc Country of Publication: Netherlands NLM ID: 101757292 Publication Model: Print Cited Medium: Internet ISSN: 2666-0849 (Electronic) Linking ISSN: 26660849 NLM ISO Abbreviation: JACC Case Rep Subsets: PubMed not MEDLINE |
| Imprint Name(s): | Original Publication: [Amsterdam] : Elsevier Inc., [2019]- |
| Abstract: | This case report describes a complex presentation of dilated cardiomyopathy (DCM) in a 14-year-old boy of Indian origin, initially presenting with nonspecific abdominal pain, who was eventually found to have severe biventricular dilatation and a rare genetic mutation in PLEKHM2, associated with increased trabeculations and DCM. His condition rapidly progressed to critical cardiogenic shock, necessitating advanced heart failure therapies. This case emphasizes the importance of considering DCM in pediatric patients with atypical presentations and underscores the utility of genetic testing in identifying rare pathologic conditions. It also highlights the challenges and successful management strategies in a pediatric patient treated within an adult health care setting, demonstrating the vital role of tailored multidisciplinary approaches in managing complex cardiomyopathies. The findings contribute to the limited literature on PLEKHM2-associated cardiomyopathy.; (Copyright © 2025 The Authors. Published by Elsevier Inc. All rights reserved.) |
| Competing Interests: | Funding Support and Author Disclosures The authors have reported that they have no relationships relevant to the contents of this paper to disclose. |
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| Contributed Indexing: | Keywords: PLEKHM2 mutation; advanced heart failure therapies; genetic testing; multidisciplinary management; pediatric dilated cardiomyopathy |
| Entry Date(s): | Date Created: 20250307 Latest Revision: 20250319 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC11911870 |
| DOI: | 10.1016/j.jaccas.2024.103023 |
| PMID: | 40054934 |
| Database: | MEDLINE |
Case Reports; Journal Article