Scintigraphic evidence for a specific long-chain fatty acid transporting system deficit and the genetic background in a patient with hypertrophic cardiomyopathy.
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.
Nakata
T
T
Second Department of Internal Medicine, Sapporo Medical University School of Medicine, Japan. tnakata@sapmed.ac.jp
Nakahara
N
N
Sohmiya
K
K
Okamoto
F
F
Tanaka
T
T
Kawamura
K
K
Shimamoto
K
K
D000328:Adult; D001692:Biological Transport / Q000235:genetics; D018955:CD36 Antigens / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging / Q000235:genetics* / Q000378:metabolism*; D005231:Fatty Acids, Unsaturated / Q000378:metabolism*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D011877:Radionuclide Imaging
D018955:CD36 Antigens; D005231:Fatty Acids, Unsaturated