Transcending Age Barriers: Successful Management of Pediatric Dilated Cardiomyopathy with Rare PLEKHM2 Mutation in an Adult Hospital

TL;DR

A 14-year-old boy with a rare PLEKHM2 mutation causing dilated cardiomyopathy was successfully treated in an adult hospital, highlighting the importance of genetic testing and multidisciplinary care.

Contribution

The paper presents a rare case of PLEKHM2-associated cardiomyopathy in a pediatric patient managed in an adult hospital setting.

Findings

A rare PLEKHM2 mutation was identified in a pediatric patient with dilated cardiomyopathy.

Successful management of a complex pediatric case in an adult healthcare setting was achieved through multidisciplinary approaches.

The case contributes new insights to the limited literature on PLEKHM2-associated cardiomyopathy.

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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