ArticleJACC. Case reports2025
Transcending Age Barriers: Successful Management of Pediatric Dilated Cardiomyopathy with Rare PLEKHM2 Mutation in an Adult Hospital.
Article in JACC. Case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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.
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