Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy.

Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a severe defect of mitochondrial fatty acid oxidation characterized by hypertrophic cardiomyopathy, pericardial effusion, steatosis, and hypoglycemia, often resulting in death by 4-5 months of age. The onset of cardiomyopathy and pericardial effusion is insidious and sudden, necessitating early diagnosis and intervention to prevent death. A family affected with this defect is described in which dietary therapy with medium-chain triglycerides (MCT) was associated with rapid reversal of these severe clinical symptoms. Diagnosis by acylcarnitine analysis in the neonatal period can provide the opportunity for early clinical intervention. Prenatal diagnosis from amniocytes by enzymology or in vitro analysis of the fat oxidation pathway with deuterated fatty acid precursors has also been successful and permits intervention at birth. Of 10 affected children, 7 untreated cases died within the first several months while the remaining 3 cases survived when treated with medium-chain triglycerides as the major source of dietary fat.

The cardiotoxicity of adriamycin and daunomycin in children.

Eight (16%) of 50 children receiving adriamycin and 2 (3%) of 60 receiving daunomycin had severe cardiomyopathy with congestive heart failure. All 110 patients received cumulative doses of over 500 mg/m2. The incidence was significantly higher in those who also had incidental cardiac radiation. The electrocardiogram, with few exceptions, provided the first indication of cardiac abnormality. There were no deaths from heart failure. Two had thromboembolic episodes. Recommendations are discussed.