Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

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Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

Synonyms: Fatal congenital hypertrophic cardiomyopathy due to GSD | Fatal congenital hypertrophic cardiomyopathy due to glycogenosis

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

association for glycogen storage disease

The Association for Glycogen Storage Disease (AGSD) is a patient advocacy organization dedicated to protecting and promoting the best interest of all persons affected by the glycogen storage disease. • AGSD is committed to the identification, treatment, and cure of glycogen storage disease through programs of education, advocacy, research, and patient services.

Clinical Trials

For a list of clinical trials in this disease area, please click here.