Transcending Age Barriers

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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Publication Details

Journal
JACC Case Reports
Published
2025-03-01
DOI
https://doi.org/10.1016/j.jaccas.2024.103023
Primary Topic
Aging and Gerontology Research
Type
article
Field-Weighted Citation Impact
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article

Transcending Age Barriers

Nadia Giannetti, Solomon Bendayan, Yossi Cohen, Elie Ganni et al.
JACC Case Reports
Aging and Gerontology Research
article

Transcending Age Barriers

Nadia Giannetti, Solomon Bendayan, Yossi Cohen, Elie Ganni, Maria Victoria Ordonez, Ethan Bendayan, Gordon Samoukovic
article en

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.

JACC Case ReportsVol. 30(5)
McGill University Health Centre (CA), McGill University (CA)
Openalex Percentile: Top 96%
Aging and Gerontology Research
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