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Start free with EleplanHistiocytoid cardiomyopathy
ORPHA:137675Disease
Also called Foamy myocardial transformation of infancy · Infantile cardiomyopathy with histiocytoid change · Infantile xanthomatous cardiomyopathy · Oncocytic cardiomyopathy
What it is
A rare arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive, Unknown, X-linked dominant
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Sometimes5–29%
17- Atrioventricular block
- Cardiomegaly
- Congestive heart failure
- Cough
- Cyanosis
- Drowsiness
- Exercise intolerance
- Failure to thrive
and 9 more in this range
Rare1–4%
24- Agenesis of corpus callosum
- Atrial fibrillation
- Atrial flutter
- Cerebellar malformation
- Cleft palate
- Congenital aphakia
- Corneal opacity
- Hemiplegia
and 16 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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