Abstract
Summary: 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.
Similar content being viewed by others
Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Papadimitriou, A., Neustein, H., Dimauro, S. et al. Histiocytoid Cardiomyopathy of Infancy: Deficiency of Reducible Cytochrome b in Heart Mitochondria. Pediatr Res 18, 1023–1028 (1984). https://doi.org/10.1203/00006450-198410000-00023
Received:
Issue date:
DOI: https://doi.org/10.1203/00006450-198410000-00023
