Histiocytoid cardiomyopathy of infancy: Deficiency of reducible cytochrome b in heart mitochondria

Alexander Papadimitriou, Harry B. Neustein, Salvatore DiMauro, Robert Stanton, Nereo Bresolin

Research output: Contribution to journalArticlepeer-review

Abstract

A 3–week–old girl with failure to thrive and cardiomegaly died of cardiac arrest at age 4 weeks. Morphologic studies of the heart showed enlarged muscle fibers with large accumulations of mitochondria, characteristic of histiocytoid cardiomyopathy. Biochemical studies showed markedly decreased succinate–cyto–chrome c reductase and rotenone–sensitive NADH–cytochrome c reductase activities, while other mitochondrial enzymes were normal. In isolated mitochondria, cytochrome spectra showed a severe defect of reducible cytochrome b and a less marked defect of cytochrome cc1, while the content of cytochrome aa3 (cyto–chrome c oxidase) was normal. Histiocytoid cardiomyopathy appears to be due to a defect of complex III (reduced coenzyme Q–cytochrome c reductase) in the respiratory chain of heart mitochondria.

Original languageEnglish
Pages (from-to)1023-1028
Number of pages6
JournalPediatric Research
Volume18
Issue number10
Publication statusPublished - 1984

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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