Home > E. Pathology by systems > Cardiovascular system > Heart > histiocytoid cardiomyopathy
histiocytoid cardiomyopathy
Monday 20 November 2006
cardiac Purkinje cell tumor, Purkinje cell tumor of the heart, multifocal Purkinje-like tumor of the heart, multifocal cardiac Purkinje cell tumor, foamy myocardial transformation of infancy, infantile xanthomatous cardiomyopathy, infnatile cardiomyopathy with histiocytoid chnage
Definition: Histiocytoid cardiomyopathy is a rare cardiac disorder of infancy and childhood that predominantly affects girls under the age of 2 years. Purkinje cells are believed to be the origin of these distinctive lesions.
Clinical synopsis
severe cardiac arrhythmias
sudden death
- sudden infant death syndrome (SIDS)
Pathological synopsis
cardiac hypertrophy with yellowish areas with irregular outlines, disseminated in the myocardium
histiocyte-like cells with foamy or granular cytoplasm positive for desmin and myoglobin
small, multifocal, subendocardial or myocardial yellow-tan nodular lesions
poorly defined plaques
sharply demarcated groups and sheets of cells with abundant foamy or granular cytoplasm ("histiocytoid" appearance)
abnormal cells are transformed cardiac myocytes that possess some features of the conducting system fibers
rare and disorganised myofibrils in electron microscopy
Differential diagnosis
mesothelial/monocytic incidental cardiac excresences (cardiac MICE) (8159657)
Associations
atrial septal defects
ventricular septal defects
endocardial fibroelastosis
left ventricle hypoplasia (hypoplastic left heart)
corneal opacities
microphtalmos
microphthalmia with linear skin defects syndrome (MLS) (12900578)
cataracts
cleft palate
hydrocephalus
agenesis of corpus callosum
renal cysts
Etiology
missense mutation in the mitochondrial cytochrome b gene (10960495)
- defect of ubiquinol cytochrome c oxidoreductase of the electron transport chain
See also
cardiomyopathies
Purkinje cells
References
Gelb AB, Van Meter SH, Billingham ME, Berry GJ, Rouse RV. Infantile histiocytoid cardiomyopathy—myocardial or conduction system hamartoma: what is the cell type involved? Hum Pathol. 1993 Nov;24(11):1226-31. PMID: 8244322
Ferrans VJ, McAllister HA Jr, Haese WH. Infantile cardiomyopathy with histiocytoid change in cardiac muscle cells. Report of six patients. Circulation. 1976 Apr;53(4):708-19. PMID: 1253396
Reid JD, Hajdu SI, Attah E. Infantile cardiomyopathy: a previously unrecognized type with histiocytoid reaction. J Pediatr. 1968 Sep;73(3):335-9. PMID: 5667416
