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Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
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
- 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
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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