[Histiocytoid cardiomyopathy in an infant]

We present a description of a clinical observation of a histiocytoid cardiomyopathy in a female patient aged 4 months. This pathology is rare in pediatric cardiology. Its etiology is linked with mutation of the gene encoding mitochondrial cytochrome B (mitochondrial transport of electrons). This mutation leads to a specific morphological and functional abnormalities of cardiomyocytes. Purkinje cells and cells of conduction system at microscopy appear as histiocytolike foam cells cytoplasm of which contain large amount of lipids and glycogen. Girls prevail among those affected. The case reflects clinical picture characteristic for this nosology: malignant arrhythmia and cardiomegaly with fatal outcome.