Dolader Paola, Juzga Corrales Diana Carolina, Esmel-Vilomara Roger, Daina Carla, Izquierdo-Blasco Jaume, Fernandez Eva, Garrido-Pontnou Marta, Navarro Alexandra, Camacho Jessica, Fidalgo Andrea, Sánchez-Salmador Rebeca, Escudero Fuensanta, Sorli Moisés, Betrian-Blasco Pedro, Roses-Noguer Ferran, Gran Ferran
Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
Paediatric Cardiology, Universitat Autònoma de Barcelona, Vall d'Hebron Hospital Campus, Barcelona, Spain.
Eur J Pediatr. 2025 Sep 18;184(10):623. doi: 10.1007/s00431-025-06424-x.
Differential diagnosis in children presenting with dilated cardiomyopathy and severe cardiac dysfunction is challenging. In our hospital, a protocol was established in 2015 in which endomyocardial biopsy (EMB) was performed in selected patients and treatment was guided by biopsy results. The study aims to describe our experience with this diagnostic and therapeutic strategy. We performed a unicenter paediatric ambispective study that include patients with dilated cardiomyopathy and severe cardiac dysfunction (left ventricular ejection fraction (LVEF) < 35%) in whom EMB was performed and treatment was prescribed based on EMB results from February 2015 to December 2024. 23 patients (24 episodes) were included. 15 patients had a complete recovery, 5 patients had a partial response to treatment and 4 had no response to treatment. Patients were divided into two groups, those with complete recovery (15) and those without complete recovery (9). No differences were observed in sex, age, clinical presentation, need for Extracorporeal Membrane Oxygenation (ECMO) or echocardiogram parameters. Complete recovery was associated with a higher degree of inflammation on EMB (p < 0.001), necrosis (= 0.007) and oedema (p = 0.036), negative genetic testing (p < 0.001), higher troponin values (p = 0.015) and positive viral PCR in myocardial tissue (p < 0.001). Conclusion: EMB is a valuable tool for diagnosis and treatment of paediatric patients presenting with dilated cardiomyopathy. Factors associated with a favourable response to therapy include: intense inflammatory infiltrate in EMB, oedema, necrosis, positive viral PCR found in the myocardium, high elevation of troponins and negative genetic testing. What is Known: • Differential diagnosis in paediatric patients presenting with severe dysfunction is challenging • EMB remains the gold standard technique for the diagnosis of myocarditis and can help to guide treatment What is New: • EMB guided treatment my benefit paediatric patients with inflammatory cardiomyopathy. • Factors associated with a favourable response to treatment in patients presenting with severe cardiac dysfunction include: intense inflammatory infiltrate in EMB, oedema, necrosis, positive viral PCR in the myocardium, high elevation of troponins and negative genetic testing. • Positive genetic testing was observed in some patients with inflammatory cardiomyopathy. In our opinion, genetic testing should be considered in all patients presenting with severe dysfunction. • Interferon β combined with corticosteroids may offer a beneficial treatment approach in patients with Parvovirus B19-induced myocarditis.
对于表现为扩张型心肌病和严重心脏功能障碍的儿童进行鉴别诊断具有挑战性。在我院，2015年制定了一项方案，对选定患者进行心内膜心肌活检（EMB），并根据活检结果指导治疗。本研究旨在描述我们采用这种诊断和治疗策略的经验。我们进行了一项单中心儿科双向研究，纳入了2015年2月至2024年12月期间接受EMB检查并根据EMB结果进行治疗的扩张型心肌病和严重心脏功能障碍（左心室射血分数[LVEF]<35%）患者。共纳入23例患者（24个病例）。15例患者完全康复，5例患者对治疗部分有效，4例患者对治疗无效。患者分为两组，完全康复组（15例）和未完全康复组（9例）。在性别、年龄、临床表现、体外膜肺氧合（ECMO）需求或超声心动图参数方面未观察到差异。完全康复与EMB上更高程度的炎症（p<0.001）、坏死（=0.007）和水肿（p=0.036）、基因检测阴性（p<0.001）、更高的肌钙蛋白值（p=0.015）以及心肌组织中病毒PCR阳性（p<0.001）相关。结论：EMB是诊断和治疗表现为扩张型心肌病的儿科患者的一种有价值的工具。与治疗良好反应相关的因素包括：EMB中有强烈的炎症浸润、水肿、坏死、心肌中病毒PCR阳性、肌钙蛋白高度升高以及基因检测阴性。已知信息：• 对表现为严重功能障碍的儿科患者进行鉴别诊断具有挑战性 • EMB仍然是诊断心肌炎的金标准技术，有助于指导治疗 新发现：• EMB指导的治疗可能使患有炎症性心肌病的儿科患者受益。• 表现为严重心脏功能障碍的患者中，与治疗良好反应相关的因素包括：EMB中有强烈的炎症浸润、水肿、坏死、心肌中病毒PCR阳性、肌钙蛋白高度升高以及基因检测阴性。• 在一些炎症性心肌病患者中观察到基因检测阳性。我们认为，所有表现为严重功能障碍的患者都应考虑进行基因检测。• 干扰素β联合皮质类固醇可能为B19微小病毒诱导的心肌炎患者提供一种有益的治疗方法。
