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Disease Profile

Infantile histiocytoid cardiomyopathy

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

I42.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Infantile xanthomatous cardiomyopathy; Focal lipid cardiomyopathy; Oncocytic cardiomyopathy;

Categories

Congenital and Genetic Diseases; Heart Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 137675

Definition
Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.

Epidemiology
The prevalence is unknown but less than 100 patients have been described in the literature so far. The majority of reported cases involved children under 2 years of age with a female:male ratio of 3:1.

Clinical description
Clinically, the disease may manifest as various types of incessant arrhythmia (including atrial and ventricular fibrillation, supraventricular and ventricular tachycardia and Wolff-Parkinson-White syndrome; see this term) but sudden death due to cardiac arrest is a common presentation. Association with other cardiac defects (ventricular and atrial septal defects, hypoplastic left heart syndrome and endocardial fibroelastosis; see these terms) and with extracardiac anomalies (hypotonia, MIDAS syndrome, Peter's anomaly and congenital glaucoma; see these terms) has also been reported.

Etiology
Histiocytoid cardiomyopathy was largely suspected to be caused by a developmental anomaly of the conduction system, however, a mtDNA mutation in the gene encoding mitochondrial cytochrome b ( MT-CYB) has been identified. In familial cases (5% of reported patients), inheritance appears to be autosomal recessive but X-linked transmission has also been suggested in patients with the association of histiocytoid cardiomyopathy and MIDAS syndrome (an X-linked dominant condition caused by mutations in the HCCS gene localised to Xp22).

Diagnostic methods
The histological findings are pathognomonic for the disease with yellow-tan nodules in the myocardium and, in some cases, in the subendocardial and subepicardial areas. The nodules are composed of nests of foamy histiocyte-like cells with a granular cytoplasm containing lipid droplets and abundant atypical mitochondria. These abnormal myocytes are found mainly in the ventricles but involvement of the valves has also been reported.

Differential diagnosis
As sudden infant death is frequently the presenting manifestation, sudden infant death syndrome (SIDS) is often the initial diagnosis in these cases but can be ruled out by histological evaluation of the myocardial tissue.

Management and treatment
Management options for patients presenting with arrhythmias include surgical removal of the nodular lesions, and electrophysiological mapping and radiofrequency ablation of the arrhythmias. Antiarrhythmics are generally ineffective but one patient showed a good response to treatment with amiodarone.

Prognosis
The prognosis in general is poor and the disease is usually fatal.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Ventricular tachycardia
0004756
5%-29% of people have these symptoms
Atrioventricular block
Interruption of electrical communication between upper and lower chambers of heart
0001678
Cardiomegaly
Enlarged heart
Increased heart size

[ more ]

0001640
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Cough
Coughing
0012735
Cyanosis
Blue discoloration of the skin
0000961
Drowsiness
Sleepy
0002329
Exercise intolerance
Decreased ability to exercise
Inability to exercise

[ more ]

0003546
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Fever
0001945
Hepatomegaly
Enlarged liver
0002240
Junctional ectopic tachycardia
0011716
Pallor
0000980
Right bundle branch block
0011712
Stroke-like episode
0002401
Tachypnea
Increased respiratory rate or depth of breathing
0002789
Vomiting
Throwing up
0002013
Wolff-Parkinson-White syndrome
0001716
1%-4% of people have these symptoms
Agenesis of corpus callosum
0001274
Atrial fibrillation
Quivering upper heart chambers resulting in irregular heartbeat
0005110
Atrial flutter
0004749
Cerebellar malformation
0002438
Cleft palate
Cleft roof of mouth
0000175
Congenital aphakia
0007707
Corneal opacity
0007957
Hemiplegia
Paralysis on one side of body
0002301
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypoglycemia
Low blood sugar
0001943
Lactic acidosis
Increased lactate in body
0003128
Laryngeal web
0005950
Lethargy
0001254
Loss of consciousness
Passing out
0007185
Megalocornea
Enlarged cornea
0000485
Microphthalmia
Abnormally small eyeball
0000568
Optic atrophy
0000648
Polycystic ovaries
0000147
Pulmonary edema
Excess fluid in lungs
Wet lung

[ more ]

0100598
Renal cyst
Kidney cyst
0000107
Seizure
0001250
Shortened PR interval
0005165
Thromboembolism
0001907
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Infantile histiocytoid cardiomyopathy. Click on the link to view a sample search on this topic.