PubMed:10353146 JSONTXT 14 Projects

An interesting case of infant sudden death: severe hypertrophic cardiomyopathy in Pompe's disease. Glycogen storage disease type II (Pompe's disease) is a rare inherited metabolic disorder, which often leads to infantile death from severe cardiomyopathy. This case of sudden death illustrates the features of the cardiac findings in the disorder, resulting from massive lysosomal accumulation of glycogen in the heart and other tissues. Pompe's disease should be considered in cases of unexplained infantile cardiomyopathy.