We herein report a patient with type I CD36 deficiency. The patient was initially suspected of having isolated cardiac sarcoidosis based on the presence of non-sustained ventricular tachycardia, delayed myocardial enhancement on magnetic resonance imaging (MRI), and diffuse accumulation of 18F-fluorodeoxyglucose (18F-FDG) on cardiac positron emission tomography (PET). Our findings suggest that the diagnosis of cardiomyopathy associated with CD36 deficiency is often missed, highlighting the importance of a differential diagnosis of isolated cardiac sarcoidosis.
Keywords: 18F-FDG PET; CD36 deficiency; Isolated cardiac sarcoidosis.