Clinical manifestations and MRI features of Danon disease: a case series

BMC Cardiovascular Disorders

Research

Ren Zhao¹  Yang Zhang²  Yushan Yuan²  Yongqiang Yu³  Bin Liu⁴  Xiaohu Li⁴ 

[1] Department of Cardiology, The First Affiliated Hospital of Anhui Medical University, 230022, Hefei, Anhui, China;Department of Radiology, Fuyang People’s Hospital, 236000, Fuyang, Anhui, China;Department of Radiology, The First Affiliated Hospital of Anhui Medical University, 230022, Hefei, Anhui, China;Research Center of Clinical Medical Imaging, 230032, Hefei, Anhui Province, China;Department of Radiology, The First Affiliated Hospital of Anhui Medical University, 230022, Hefei, Anhui, China;Research Center of Clinical Medical Imaging, 230032, Hefei, Anhui Province, China;Department of Radiology, First Affiliated Hospital of Anhui Medical University, No.218 Jixi Road, 230022, Hefei, Anhui, China;

关键词: Danon disease;    Magnetic resonance imaging;    Extracellular volume fraction;    T1 mapping;   

DOI  :  10.1186/s12872-023-03356-y

 received in 2022-03-18, accepted in 2023-06-18,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundDanon 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 presentationWe 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.ConclusionPatients 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.

【 授权许可】

CC BY   
© BioMed Central Ltd., part of Springer Nature 2023

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