Bendayan Solomon, Ganni Elie, Ordonez Maria Victoria, Bendayan Ethan, Cohen Yossi, Samoukovic Gordon, Giannetti Nadia
Department of Internal Medicine, McGill University, Montreal, Quebec, Canada.
Department of Cardiology, McGill University, Montreal, Quebec, Canada.
JACC Case Rep. 2025 Mar 5;30(5):103023. doi: 10.1016/j.jaccas.2024.103023.
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.
本病例报告描述了一名14岁印度裔男孩扩张型心肌病（DCM）的复杂表现，该男孩最初表现为非特异性腹痛，最终被发现患有严重的双心室扩张以及PLEKHM2基因的罕见突变，这与小梁增多和DCM相关。他的病情迅速发展为严重的心源性休克，需要先进的心力衰竭治疗。本病例强调了在非典型表现的儿科患者中考虑DCM的重要性，并强调了基因检测在识别罕见病理状况中的作用。它还突出了在成人医疗环境中治疗儿科患者所面临的挑战和成功的管理策略，证明了量身定制的多学科方法在管理复杂心肌病中的重要作用。这些发现为关于PLEKHM2相关心肌病的有限文献做出了贡献。
