Hypertrophy cardiomyopathy: A case of infantile-onset Pompe disease in cardiac magnetic resonance findings

There are two clinical types of Pompe disease: infantile-onset and late-onset, while the former is much more severe. We reported a typical case of Pompe disease in a 9-month infant who presenting with repeated pneumonia, growth retardation and hypomyotonia, hepatomegaly, accompany with elevated of serum creatine kinase and liver transaminase. Cardiac magnetic resonance (CMR) showed marked hypertrophy of both ventricles including the septum, and extensive myocardial late enhancement. The gene testing result was confirmed the disease finaly. Familiarity with the imaging findings can aid in making an accurate diagnosis and determining the appropriate treatment.