Cardiomyopathy in respiratory chain disorders. Issue 3 (March 1995)

• Record Type: Journal Article
• Authors: Guenthard, J; Wyler, F; Fowler, B; Baumgartner, R
• Is Part Of: Archives of disease in childhood. Volume 72:Issue 3(1995)
• Page Start: 223
• Page End: 226
• Publication Date: 1995-03
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.72.3.223
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : Disorders of mitochondrial oxidative phosphorylation may disturb cardiac energy metabolism and cause cardiomyopathy. Twenty one cases from the literature and one further patient with cardiomyopathy due to biochemically defined respiratory chain defects were reviewed for clinical course, morphology, and pathophysiological mechanisms of the cardiomyopathy. All cases showed concentric hypertrophy of the myocardium without an outflow tract obstruction. In most patients the cardiomyopathy was diagnosed early in infancy and showed rapid deterioration with death before the age of 2 years. Hypertrophy of the myocardium appears to result from swelling of the cardiomyocytes caused by accumulation of mitochondria and by morphologically abnormal megamitochondria.