This case suggests that the CD36 protein is a specific transporter involved in the cardiac uptake of long-chain free fatty acids, and its deficiency explains scintigraphic defects on fatty acid imaging.
Type I CD36 deficiency may explain fatty acid imaging defects; hypothesis-generating for its role as cardiac long-chain FFA transporter.
The mechanism of cardiac uptake of long-chain free fatty acids has not been fully determined. We encountered a hypertrophic cardiomyopathy patient who showed a lack of cardiac uptake of 2 different types of long-chain fatty acid analogues on the scintigraphic images. Flow cytometric analysis revealed no platelet or monocyte CD36 molecule expression (type I CD36 deficiency) and his CD36 gene showed homozygous mutation for 478C to T substitution, leading to an abnormal CD36 amino acid sequence. These findings strongly suggest that a specific transporting system rather than a simple diffusion is commonly involved in the cardiac uptake of long-chain free fatty acids in humans, and that the CD36 protein is the most likely candidate for the specific transporter and to explain scintigraphic defects on fatty acid imaging.
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Nakata et al. (1999) studied this question.
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