infantile histiocytoid cardiomyopathy

MeSH: C535584ORPHA: 137675

Overview

intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has material basis in a mutation in the gene encoding mitochondrial cytochrome b

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with infantile histiocytoid cardiomyopathy, sourced from HPO and Orphanet clinical annotations.

TachycardiaSupraventricular tachycardiaVentricular tachycardiaCyanosisPallorFailure to thriveCongestive heart failureCardiomegalyAtrioventricular blockWolff-Parkinson-White syndromeFeverVomitingHepatomegalyDrowsinessStroke-like episodeTachypneaExercise intoleranceComplete right bundle branch blockJunctional ectopic tachycardiaCoughRenal cystPolycystic ovariesCleft palateHydrocephalusMegalocorneaMicrophthalmiaOptic atrophySeizureLethargyAgenesis of corpus callosumVentricular septal defectThromboembolismHypoglycemiaHemiplegiaAbnormal cerebellum morphologyLactic acidosisAtrial flutterAtrial fibrillationShortened PR intervalLaryngeal webLoss of consciousnessCongenital aphakiaCorneal opacityPulmonary edema

Classification & Codes

MeSH Code

C535584

Orphanet Code

ORPHA:137675
infantile histiocytoid cardiomyopathy
MeSHC535584
OrphanetORPHA:137675
Treatments0 drug(s)
Symptoms on record44 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO