A case of cardiomyopathy showing progression from the hypertrophic to the dilated form: association of Mt8348A-->G mutation in the mitochondrial tRNA(Lys) gene with severe ultrastructural alterations of mitochondria in cardiomyocytes

Jpn Circ J. 2001 Jul;65(7):691-4. doi: 10.1253/jcj.65.691.


This report describes a case of cardiomyopathy with a novel point mutation of mitochondrial DNA coding lysine tRNA in association with severe ultrastructural alterations of the mitochondria in the cardiomyocytes. Abnormalities of energy production and/or abnormal protein synthesis because of the mutation of mitochondrial DNA may have played an important role in the pathogenesis of this case, which showed severe cardiomyocyte degeneration and deterioration from hypertrophic cardiomyopathy to severe dilated cardiomyopathy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Dilated / pathology*
  • Cardiomyopathy, Hypertrophic / etiology
  • Cardiomyopathy, Hypertrophic / genetics*
  • Cardiomyopathy, Hypertrophic / pathology*
  • Child
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics
  • Disease Progression
  • Humans
  • Male
  • Middle Aged
  • Mitochondria / genetics
  • Mitochondria / pathology
  • Mitochondria / ultrastructure
  • Myocardium / cytology
  • Point Mutation
  • RNA, Transfer, Lys / genetics


  • DNA, Mitochondrial
  • RNA, Transfer, Lys