丹农病的临床表现和 MRI 特征：病例系列研究。
Clinical manifestations and MRI features of Danon disease: a case series.
机构信息
Department of Radiology, Fuyang People's Hospital, Fuyang, 236000, Anhui, China.
Department of Cardiology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, Anhui, China.
出版信息
BMC Cardiovasc Disord. 2023 Aug 11;23(1):397. doi: 10.1186/s12872-023-03356-y.
BACKGROUND
Danon disease (DD) is an exceptionally uncommon X-linked dominant lysosomal glycogen storage disorder characterized by pronounced ventricular hypertrophy and cardiac insufficiency. The timely identification of cardiac impairment in individuals with DD holds significant clinical importance.
CASE PRESENTATION
We present a case of Danon Disease in a three-generation pedigree from Anhui Province, China. Clinical features and laboratory data were collected and analyzed for a 16-year-old male proband (III-1) and two affected female family members (II-2 and II-3). The proband exhibited Wolf-Parkinson-White syndrome, hypertrophic cardiomyopathy, abnormal cognitive function, and muscle weakness. Gene sequencing confirmed a mutation (c.963G > A) in the LAMP-2 gene.
CONCLUSION
Patients with DD may present both dilated and hypertrophic cardiomyopathy. Comprehensive myocardial tissue characterization by MRI plays a key role in the diagnosis of the disease.
背景
丹诺病（Danon disease，DD）是一种极其罕见的 X 连锁显性溶酶体糖原贮积病，其特征为明显的心室肥厚和心功能不全。及时发现 DD 患者的心脏损害具有重要的临床意义。
病例介绍
我们报告了一个来自中国安徽省的三代丹诺病家系。收集并分析了 16 岁男性先证者（III-1）和两名受累女性家族成员（II-2 和 II-3）的临床特征和实验室数据。先证者表现为 Wolf-Parkinson-White 综合征、肥厚型心肌病、认知功能异常和肌肉无力。基因测序证实 LAMP-2 基因存在突变（c.963G>A）。
结论
DD 患者可表现为扩张型和肥厚型心肌病。MRI 对心肌组织的综合特征分析对该病的诊断具有关键作用。
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