Abstract
BACKGROUND: Free fatty acid is a major energy source in the healthy heart and cluster of differentiation 36 (CD36) partially regulates the rate of myocardial fatty acid uptake. Here, we report a case of CD36 deficiency-related cardiomyopathy with a unique pathophysiology. Heart failure was accelerated by co-existing mitral valve prolapse (MVP) without a distinct phenotype of hypertrophic or dilated cardiomyopathy. CASE SUMMARY: A middle-aged man was aware of dyspnoea and hospitalized for heart failure with MVP. Cluster of differentiation 36 deficiency was found based on the absence of myocardial (123)l-15-(p-iodophenyl)-3-(R,S)-methyl pentadecanoic acid (BMIPP) uptake by myocardial scintigraphy. Type I CD36 deficiency was further diagnosed by the lack of CD36 in both platelets and monocytes by flow cytometry. Left ventricular muscle was obtained intraoperatively, and a histological examination reflected compensative hypertrophy of cardiomyocytes with myofibrillar loss and reactive fibrosis. The microvascular structure around the cardiomyocytes was highlighted by immunohistochemical staining for CD31, while CD36 expression was absent. He had an operation of mitral valve replacement and improved heart failure. DISCUSSION: Cluster of differentiation 36 deficiency potentially mediates various pathological conditions in the heart. Incidental CD36 deficiency-related cardiomyopathy may accelerate heart failure in the presence of co-existing heart diseases. BMIPP scintigraphy might be helpful for predicting CD36 deficiency.