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Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

Disease definition

A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases.

ORPHA:439854

Classification level: Disorder
  • Synonym(s):
    • Fatal congenital hypertrophic cardiomyopathy due to GSD
    • Fatal congenital hypertrophic cardiomyopathy due to glycogenosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: E74.0+  G73.6*
  • OMIM: 261740
  • UMLS: C1849813
  • MeSH: -
  • GARD: -
  • MedDRA: -

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