Preferred Label : Cardiomyopathy, infantile histiocytoid;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Cardiomyopathy, focal lipid; Cardiomyopathy, oncocytic; Foamy myocardial transformation of infancy; Cardiomyopathy, infantile xanthomatous;
Description : Histiocytoid cardiomyopathy, which was initially described by Voth (1962), goes by
various names, including infantile xanthomatous cardiomyopathy (MacMahon, 1971), focal
lipid cardiomyopathy (Bove and Schwartz, 1973), oncocytic cardiomyopathy (Silver et
al., 1980), infantile cardiomyopathy with histiocytoid change (Ferrans et al., 1976),
and foamy myocardial transformation of infancy (Yatani et al., 1988). The disorder
is a rare but distinctive entity of infancy and childhood characterized by the presence
of characteristic pale granular foamy histiocyte-like cells within the myocardium.
It usually affects children younger than 2 years of age, with a clear predominance
of females over males. Infants present with dysrhythmia or cardiac arrest, and the
clinical course is usually fulminant, sometimes simulating sudden infant death syndrome
(Andreu et al., 2000).;
Prefixed ID : #500000;
Origin ID : 500000;
UMLS CUI : C1708371;
Currated CISMeF NLP mapping
- DO Cross reference
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
