Scintigraphic Evidence for a Specific Long-Chain Fatty Acid Transporting System Deficit and the Genetic Background in a Patient With Hypertrophic Cardiomyopathy

被引用文献3件 参考文献23件
  • NAKATA Tomoaki
    Second Department of Internal Medicine(Cardiovascular Medicine),Sapporo Medical University School of Medicine
  • NAKAHARA Norifumi
    Second Department of Internal Medicine(Cardiovascular Medicine),Sapporo Medical University School of Medicine
  • SOHMIYA Koichi
    The Third Division,Department of Internal Medicine,Osaka Medical College
  • OAKAMOTO Fumio
    The Third Division,Department of Internal Medicine,Osaka Medical College
  • TANAKA Takao
    The Third Division,Department of Internal Medicine,Osaka Medical College
  • KAWAMURA Keishiro
    The Third Division,Department of Internal Medicine,Osaka Medical College
  • SHIMAMOTO Kazuaki
    Second Department of Internal Medicine(Cardiovascular Medicine),Sapporo Medical University School of Medicine

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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 ^<478>C 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 trans-porter and to explain scintigraphic defects on fatty acid imaging.

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