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Updated: Jul 19, 2025
Quantitative Magnetic Resonance Imaging of Skeletal Muscle Disease
Published on: December 18, 2016
Clinical manifestations and MRI features of Danon disease: a case series
Yang Zhang1, Ren Zhao2, Yushan Yuan1
1Department of Radiology, Fuyang People's Hospital, Fuyang, 236000, Anhui, China.
Insights
Danon disease, a rare genetic disorder, causes severe heart problems. This study details a Chinese family with Danon disease, highlighting LAMP-2 gene mutations and cardiac symptoms.
Area of Science:
- Genetics
- Cardiology
- Rare Diseases
Background:
- Danon disease (DD) is a rare X-linked dominant lysosomal glycogen storage disorder.
- It is characterized by significant ventricular hypertrophy and cardiac insufficiency.
- Early diagnosis of cardiac impairment in DD patients is crucial.
Observation:
- A three-generation Chinese family with Danon disease was studied.
- The proband, a 16-year-old male, presented with Wolf-Parkinson-White syndrome, hypertrophic cardiomyopathy, cognitive impairment, and muscle weakness.
- Affected female family members also displayed cardiac and neurological symptoms.
Findings:
- Genetic analysis identified a specific mutation (c.963G>A) in the LAMP-2 gene in affected individuals.
- The study confirms the LAMP-2 gene's role in Danon disease pathogenesis.
- Clinical manifestations varied, including both hypertrophic and dilated cardiomyopathy.
Implications:
- This case report expands the understanding of Danon disease presentation in a Chinese population.
- Comprehensive myocardial characterization using MRI is vital for diagnosing Danon disease.
- Identifying LAMP-2 mutations aids in early diagnosis and management of affected individuals and families.
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.
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