日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

In cases of secondary cardiomyopathies, it is crucial to distinguish between background diseases, such as metabolic and neuromuscular diseases, that are often seen in children. The age at onset varies according to the cause and is important for the differential diagnosis. This review discusses the diagnosis and pathogenesis of cardiomyopathy associated with Fabry disease, Pompe disease, Danon disease, mitochondrial disease, RAS/MAPK syndrome (RASopathies), and Duchenne/Becker muscular dystrophy, which often occur in children and adults in transition. We also discuss the role of myocardial biopsy in the identification of secondary cardiomyopathies.