Abstract
Danon disease is a rare X-linked dominant lysosomal glycogen storage disease that can lead to severe ventricular hypertrophy and heart failure. We report a case of Danon disease with cardiac involvement evaluated with cardiovascular magnetic resonance, including late gadolinium enhancement and perfusion studies.
MeSH terms
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Biopsy
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Cardiomyopathy, Hypertrophic / etiology
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Cardiomyopathy, Hypertrophic / pathology*
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Cardiomyopathy, Hypertrophic / physiopathology
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Cardiomyopathy, Hypertrophic / therapy
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Contrast Media
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Coronary Circulation
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Fatal Outcome
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Gadolinium DTPA
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Glycogen Storage Disease Type IIb / complications
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Glycogen Storage Disease Type IIb / diagnosis*
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Glycogen Storage Disease Type IIb / pathology
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Glycogen Storage Disease Type IIb / physiopathology
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Heart Failure / etiology
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Heart Failure / pathology*
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Heart Failure / physiopathology
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Heart Failure / therapy
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Humans
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Magnetic Resonance Imaging, Cine*
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Male
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Myocardium / pathology*
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Myocardium / ultrastructure
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Ventricular Function
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Young Adult
Substances
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Contrast Media
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Gadolinium DTPA