MedGen

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene. [from MONDO]

A rare glycogen storage disease with 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. [from SNOMEDCT_US]

An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line. [from HPO]