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Cardiomyopathy, infantile histiocytoid MeSH Supplementary Concept Data 2024


MeSH Supplementary
Cardiomyopathy, infantile histiocytoid
Unique ID
C535584
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535584
Entry Term(s)
Cardiomyopathy, Focal Lipid
Cardiomyopathy, Infantile Xanthomatous
Cardiomyopathy, Oncocytic
Foamy myocardial transformation of infancy
Focal lipid cardiomyopathy
Infantile xanthomatous cardiomyopathy
Oncocytic cardiomyopathy
Registry Number
0
Heading Mapped to
Cardiomyopathies / *congenital
Electron Transport Complex III / *deficiency
Frequency
17
Note
A rare cardiomyopathy with onset usually before age 2; generally, more females are affected than males. It is characterized by the presence of pale granular foamy cells that resemble HISTIOCYTES within the MYOCARDIUM. Infants present with sudden onset dysrhythmia or cardiac arrest, similar to SIDS. It may be associated with mutations in the electron transport complex III, cytochrome b (MTCYB) gene. OMIM: 500000
Date of Entry
2010/08/25
Revision Date
2016/09/29
Cardiomyopathy, infantile histiocytoid Preferred
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