Late Recognition of Andersen's Disease in Advanced Heart Failure

ABSTRACT

Glucogen storage diseases such as Andersen's disease are inherited disorders of carbohydrate metabolism. Cardiac involvement in Andersen's disease is extremely unusual and difficult to diagnose, especially in elderly individuals with atypical presentations. The following is a case of a 61-year-old man with a family history of muscle weakness who presented with congestive heart failure and was found to have Andersen disease cardiomyopathy. The diagnosis was made in view of the normal negative workup for cardiomyopathy, massive glucose tetrasaccharide excretion, and normal alpha-glucosidase activity. The patient rapidly deteriorated and passed away. This case highlights the need to consider storage diseases in adults with nonischemic dilated cardiomyopathy of uncertain etiology in the presence of liver or muscle involvement