在心脏MRI上呈现异常非septal节省LGE的丹农病:一个病例报告
Jiaqi Li1, Lingcheng Zhu2, Sen Yuan2
1Department of Medical Imaging, Binzhou Medical University, Guanhai Road No. 346, Laishan District, Yantai, Shandong Province 264003, China.
European heart journal. Case reports
|December 15, 2025
概括
丹恩病是一种影响肌肉和神经的遗传性疾病,即使没有典型的心脏扩大,也可以通过心脏成像和遗传检测在幼儿中进行诊断. 早期识别是管理这种罕见疾病的关键.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 丹恩病是一种罕见的遗传疾病,影响心脏,骨和中枢神经系统.
- 在儿童中,由于心脏症状出现的延迟,它往往没有被诊断出来.
研究的目的:
- 报告最年轻的患者患有导致达农病的新型LAMP2变异.
- 为了突出特定的心脏磁共振 (CMR) 在儿科丹恩病的发现.
主要方法:
- 一个儿科患者的病例报告,患有无法解释的心脏异常.
- 心脏磁共振 (CMR) 图像检查,以评估心脏结构和功能.
- 基因测序以确定致病变体.
主要成果:
- 该患者在CMR上呈现出心脏生物标志物升高,电气异常和隔膜占主导地位的LGE.
- 经典的结构变化,如左心室缩缺席.
- 基因测序证实了一种新的 lysosome相关膜蛋白-2 (LAMP2) 变异.
结论:
- 达农病可以在年轻患者中表现出特定的CMR模式,即使没有左心室缩.
- 临床医生应考虑在儿科患者中治疗丹农病,这些患者有不明原因的生物标志物,电气异常和特征性LGE.
- 早期遗传检测对于准确的诊断和管理至关重要.
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