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Foamy myocardial transformation in a child with a disturbed respiratory chain
H Böhles1, H Singer, W Ruitenbeek
1Universitätskinderklinik, Erlangen, Federal Republic of Germany.
Insights
This study investigates a rare infant condition involving muscle hypotonia and heart enlargement, characterized by lactic acidosis and elevated alanine levels. Research suggests mitochondrial respiratory chain defects may cause foamy myocardial transformation.
Area of Science:
- Biochemistry
- Pediatric Cardiology
- Mitochondrial Diseases
Background:
- Infantile hypotonia and cardiac hypertrophy can indicate underlying metabolic disorders.
- Persistent lactic acidosis and elevated serum alanine are critical biochemical markers.
Abstract:
A female infant presented with signs of general muscle hypotonia and increasing hypertrophy of the heart muscle. There was a constant lactic acidosis worsened after glucose intake. Serum lactate levels were increased up to 6.7 mmol/l. Serum alanine levels reached maximum concentrations of 2,800 mumol/l. The patient died after sudden cardiac arrest at 22 months of age. Histology of the heart showed the pattern of foamy myocardial transformation with accumulation of mitochondria and an increased glycogen content. Biochemical analysis of the skeletal muscle and the heart demonstrated signs of a disturbed respiratory chain. The content of cytochrome aa3 protein was decreased in skeletal muscle and heart mitochondria. It is suggested that respiratory chain defects may be the cause of foamy myocardial transformation of the heart.