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Histiocytoid cardiomyopathy

Disease definition

A rare arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.


Classification level: Disorder
  • Synonym(s):
    • Foamy myocardial transformation of infancy
    • Infantile cardiomyopathy with histiocytoid change
    • Infantile xanthomatous cardiomyopathy
    • Oncocytic cardiomyopathy
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant or Unknown or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: I42.0
  • ICD-11: BC43.00
  • OMIM: 212080  500000
  • UMLS: C1708371
  • MeSH: C535584
  • GARD: 9511
  • MedDRA: -

Detailed information

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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