Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Disease Synonyms Fatal congenital hypertrophic cardiomyopathy due to GSD Śmiertelna wrodzona kardiomiopatia przerostowa spowodowana glikogenozą Śmiertelna wrodzona kardiomiopatia przerostowa spowodowana GSD Fatal congenital hypertrophic cardiomyopathy due to glycogenosis ORPHA code 439854 OMIM code 261740 ICD10 code G73.6* ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl