title: [Histiocytoid cardiomyopathy in an infant].
abstract: 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.
authors: L V
authors: LV
authors: Bregel'
authors: Iu M
authors: IuM
authors: Belozerov
authors: M L
authors: ML
authors: Ogloblina
authors: S S
authors: SS
authors: Golubev
authors: O A
authors: OA
authors: Zemchenko
authors: K N
authors: KN
authors: Pavlenok
authors: E P
authors: EP
authors: Antoshkina
authors: A K
authors: AK
authors: Bochkareva
authors: T N
authors: TN
authors: Popod'ko
mesh_terms: D000889:Anti-Arrhythmia Agents / Q000008:administration & dosage; D006332:Cardiomegaly / Q000209:etiology / Q000503:physiopathology; D009202:Cardiomyopathies / Q000150:complications / Q000151:congenital* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D045303:Cytochromes b / Q000235:genetics*; D014450:Electron Transport Complex III / Q000172:deficiency / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D005487:Foam Cells / Q000378:metabolism / Q000473:pathology; D006329:Heart Conduction System / Q000473:pathology / Q000503:physiopathology; D006651:Histocytochemistry; D006801:Humans; D007223:Infant; D008929:Mitochondria, Heart / Q000235:genetics*; D009154:Mutation; D054141:Ventricular Flutter / Q000209:etiology / Q000503:physiopathology
chemical_list: D000889:Anti-Arrhythmia Agents; D045303:Cytochromes b; D014450:Electron Transport Complex III