ORPHA:137675
Histiocytoid cardiomyopathy
Also known as: Foamy myocardial transformation of infancy · Infantile cardiomyopathy with histiocytoid change · Infantile xanthomatous cardiomyopathy · Oncocytic cardiomyopathy
Publications
705
Trials
0
Interventional, condition-specific
Researchers
1,265
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010771
- MeSH:C535584
- OMIM:500000
- UMLS:C1708371
- NCIT:C45745
Additional Mondo synonyms (10)
Arachnocytosis of the myocardium · Purkinje cell hamartoma · congenital cardiomyopathy · foamy myocardial transformation of infancy · histiocytoid cardiomyopathy · infantile cardiomyopathy with histiocytoid change · infantile xanthomatous cardiomyopathy · isolated Cardiac lipidosis · myocardial hamartoma · oncocytic cardiomyopathy
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
705 matched papers (379 in last 10 years) Source
- Phenotype characterisedPresent
48 HPO annotations (e.g. Pallor; Exercise intolerance; Complete right bundle branch block) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
48
Associated phenotypes · MONDO:0010771
- Pallor
- Exercise intolerance
- Complete right bundle branch block
- Junctional ectopic tachycardia
- Megalocornea
Showing 5 of 48 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
705
705 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
705 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
379 in the last 10 years · low confidence
Phrase hits: 662 · MeSH hits: 56
Who's working on it?
1,265
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Chen H3 papers · 2026
Department of Anesthesiology, Second Affiliated Hospital, Army Medical University, Chongqing 400037, China.
Papers in Europe PMC - 02Finsterer J3 papers · 2025
City Hospital Landstrasse, Messerli Institute, Vienna, Austria.
Papers in Europe PMC - 03Wang H3 papers · 2024
Department of Cardiovascular Surgery, the First Peoples' Hospital of Yunnan Province, Kunming, Yunnan, PR China.
Papers in Europe PMC - 04Wang X3 papers · 2026
Institute of Systems and Physical Biology, Shenzhen Bay Laboratory, Shenzhen 518132, China.
Papers in Europe PMC - 05Wang Y3 papers · 2026
Department of Cardiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Papers in Europe PMC - 06Zhang X3 papers · 2023
Cord Blood Bank Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou 510180, China.
Papers in Europe PMC - 07Alharbi HO2 papers · 2022
School of Biological Sciences, University of Reading, Reading RG6 2AS, U.K.
Papers in Europe PMC - 08Alsoufi B2 papers · 2025
Department of Cardiothoracic Surgery, Norton Children's Hospital, University of Louisville, Louisville, KY, USA.
Papers in Europe PMC - 09Barrington C2 papers · 2022
Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT, U.K.
Papers in Europe PMC - 10Berry GJ2 papers · 2023
Department of Pathology, Stanford University, Stanford, California.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT05658965·RECRUITING·KIDSHEART AND BRAIN : Early EEG Surgery Congenital Heart Disease Predict Onset of Neurodevelopmental Disorders
Conditions: Neurodevelopmental Disorders · Congenital Cardiomyopathy·Matched via name phrase
- NCT06818760·RECRUITING·Remote Monitoring in Pregnant Women With Congenital Heart Disease Using Wrist Wearables
Conditions: Congenital Heart Disease · Congenital Vascular Disorder · Congenital Cardiomyopathy · Pregnancy Related·Matched via name phrase
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Histiocytoid cardiomyopathy — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Histiocytoid cardiomyopathy" OR "Foamy myocardial transformation of infancy" OR "Foamy myocardial transformation of the infancy" OR "Infantile cardiomyopathy with histiocytoid change" OR "Infantile xanthomatous cardiomyopathy" OR "Oncocytic cardiomyopathy" OR "Arachnocytosis of the myocardium" OR "Arachnocytosis of myocardium" OR "Purkinje cell hamartoma" OR "congenital cardiomyopathy" OR "isolated Cardiac lipidosis" OR "myocardial hamartoma"
MeSH descriptor terms unioned into the query: Cardiomyopathy, infantile histiocytoid
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Histiocytoid cardiomyopathy" OR "Foamy myocardial transformation of infancy" OR "Foamy myocardial transformation of the infancy" OR "Infantile cardiomyopathy with histiocytoid change" OR "Infantile xanthomatous cardiomyopathy" OR "Oncocytic cardiomyopathy" OR "Arachnocytosis of the myocardium" OR "Arachnocytosis of myocardium" OR "Purkinje cell hamartoma" OR "congenital cardiomyopathy" OR "isolated Cardiac lipidosis" OR "myocardial hamartoma" OR "Cardiomyopathy, infantile histiocytoid"
Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (705) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T07:27:46.729Z