Specific cardiomyopathy caused by multisystemic lipid storage in Jordans' anomaly

Abstract

Multisystemic lipid storage disease is a rare disorder of lipid metabolism. We report one case of a Japanese man with systemic lipid storage in skeletal muscle and heart as well as in leukocytes (Jordans' anomaly). Positron emission tomography (PET) using 18F-fluoro-2-deoxyglucose (FDG) clearly revealed an abnormal increase of uptake during fasting in the left ventricle, suggesting changes in the energy metabolism in the heart.