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小儿扩张型心肌病:当前临床治疗方法及发病机制综述

Pediatric dilated cardiomyopathy: a review of current clinical approaches and pathogenesis.

作者信息

Malinow Ian, Fong Daniel C, Miyamoto Matthew, Badran Sarah, Hong Charles C

机构信息

Division of Cardiovascular Medicine, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, United States.

Department of Pediatric Cardiology, Michigan State University College of Human Medicine Helen Devos Children's Hospital, Grand Rapids, MI, United States.

出版信息

Front Pediatr. 2024 Jun 19;12:1404942. doi: 10.3389/fped.2024.1404942. eCollection 2024.

Abstract

Pediatric dilated cardiomyopathy (DCM) is a rare, yet life-threatening cardiovascular condition characterized by systolic dysfunction with biventricular dilatation and reduced myocardial contractility. Therapeutic options are limited with nearly 40% of children undergoing heart transplant or death within 2 years of diagnosis. Pediatric patients are currently diagnosed based on correlating the clinical picture with echocardiographic findings. Patient age, etiology of disease, and parameters of cardiac function significantly impact prognosis. Treatments for pediatric DCM aim to ameliorate symptoms, reduce progression of disease, and prevent life-threatening arrhythmias. Many therapeutic agents with known efficacy in adults lack the same evidence in children. Unlike adult DCM, the pathogenesis of pediatric DCM is not well understood as approximately two thirds of cases are classified as idiopathic disease. Children experience unique gene expression changes and molecular pathway activation in response to DCM. Studies have pointed to a significant genetic component in pediatric DCM, with variants in genes related to sarcomere and cytoskeleton structure implicated. In this regard, pediatric DCM can be considered pediatric manifestations of inherited cardiomyopathy syndromes. Yet exciting recent studies in infantile DCM suggest that this subset has a distinct etiology involving defective postnatal cardiac maturation, such as the failure of programmed centrosome breakdown in cardiomyocytes. Improved knowledge of pathogenesis is central to developing child-specific treatment approaches. This review aims to discuss the established biological pathogenesis of pediatric DCM, current clinical guidelines, and promising therapeutic avenues, highlighting differences from adult disease. The overarching goal is to unravel the complexities surrounding this condition to facilitate the advancement of novel therapeutic interventions and improve prognosis and overall quality of life for pediatric patients affected by DCM.

摘要

小儿扩张型心肌病(DCM)是一种罕见但危及生命的心血管疾病,其特征为收缩功能障碍伴双心室扩张及心肌收缩力降低。治疗选择有限,近40%的儿童在诊断后2年内接受心脏移植或死亡。目前小儿患者是根据临床症状与超声心动图检查结果进行诊断的。患者年龄、疾病病因及心功能参数对预后有显著影响。小儿DCM的治疗旨在缓解症状、减缓疾病进展并预防危及生命的心律失常。许多在成人中已证实有效的治疗药物在儿童中缺乏同样的证据。与成人DCM不同,小儿DCM的发病机制尚未完全明确,约三分之二的病例被归类为特发性疾病。儿童在患DCM时会经历独特的基因表达变化和分子途径激活。研究表明小儿DCM存在显著的遗传因素,与肌节和细胞骨架结构相关的基因变异与之有关。在这方面,小儿DCM可被视为遗传性心肌病综合征的小儿表现形式。然而,最近关于婴儿DCM的令人兴奋的研究表明,这一亚组有独特的病因,涉及出生后心脏成熟缺陷,如心肌细胞中程序化中心体解体失败。深入了解发病机制对于开发针对儿童的治疗方法至关重要。本综述旨在讨论小儿DCM已明确的生物学发病机制、当前临床指南及有前景的治疗途径,突出与成人疾病的差异。总体目标是阐明围绕该疾病的复杂性,以促进新型治疗干预措施的发展,改善受DCM影响的小儿患者的预后和整体生活质量。

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