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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

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)


- 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


- missense mutation in the mitochondrial cytochrome b gene (10960495)

See also

- cardiomyopathies
- Purkinje cells


- 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