MCID: CRD231
MIFTS: 26

Cardiomyopathy, Infantile Histiocytoid

Categories: Rare diseases, Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Cardiomyopathy, Infantile Histiocytoid

MalaCards integrated aliases for Cardiomyopathy, Infantile Histiocytoid:

Name: Cardiomyopathy, Infantile Histiocytoid 57 75
Infantile Histiocytoid Cardiomyopathy 12 53 29 6
Foamy Myocardial Transformation of Infancy 57 53 59
Histiocytoid Cardiomyopathy 53 59 73
Infantile Xanthomatous Cardiomyopathy 53 59
Oncocytic Cardiomyopathy 53 59
Infantile Cardiomyopathy with Histiocytoid Change 59
Cardiomyopathy, Infantile Xanthomatous 57
Cardiomyopathy Infantile Xanthomatous 75
Cardiomyopathy, Focal Lipid 57
Focal Lipid Cardiomyopathy 53
Cardiomyopathy Focal Lipid 75
Cardiomyopathy, Oncocytic 57
Cardiomyopathy Oncocytic 75
Cmih 75

Characteristics:

Orphanet epidemiological data:

59
histiocytoid cardiomyopathy
Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:



External Ids:

OMIM 57 500000
Disease Ontology 12 DOID:0080198
Orphanet 59 ORPHA137675
MESH via Orphanet 45 C535584
UMLS via Orphanet 74 C1708371
ICD10 via Orphanet 34 I42.0
MedGen 42 C1708371
MeSH 44 D009202
UMLS 73 C1708371

Summaries for Cardiomyopathy, Infantile Histiocytoid

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 137675Disease definitionHistiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium. 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. 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 congenitalglaucoma; see these terms) has also been reported. Histiocytoid cardiomyopathy was largely suspected to be caused by a developmental anomaly of the conduction system, however, a mtDNAmutation 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). 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. 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 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. The prognosis in general is poor and the disease is usually fatal.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cardiomyopathy, Infantile Histiocytoid, also known as infantile histiocytoid cardiomyopathy, is related to mitochondrial disorders and cardiac conduction defect. An important gene associated with Cardiomyopathy, Infantile Histiocytoid is MT-CYB (Mitochondrially Encoded Cytochrome B). Affiliated tissues include heart.

Disease Ontology : 12 An 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.

OMIM : 57 Histiocytoid cardiomyopathy, which was initially described by Voth (1962), goes by various names, including infantile xanthomatous cardiomyopathy (MacMahon, 1971), focal lipid cardiomyopathy (Bove and Schwartz, 1973), oncocytic cardiomyopathy (Silver et al., 1980), infantile cardiomyopathy with histiocytoid change (Ferrans et al., 1976), and foamy myocardial transformation of infancy (Yatani et al., 1988). The disorder is a rare but distinctive entity of infancy and childhood characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest, and the clinical course is usually fulminant, sometimes simulating sudden infant death syndrome (Andreu et al., 2000). (500000)

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, infantile histiocytoid: A heart disease characterized by the presence of pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest. The clinical course is usually fulminant, sometimes simulating sudden infant death syndrome.

Related Diseases for Cardiomyopathy, Infantile Histiocytoid

Diseases related to Cardiomyopathy, Infantile Histiocytoid via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 mitochondrial disorders 10.0
2 cardiac conduction defect 9.9
3 wolff-parkinson-white syndrome 9.9
4 aging 9.9
5 microphthalmia 9.9
6 pericarditis 9.9
7 mitochondrial metabolism disease 9.9
8 myocarditis 9.9
9 hypotonia 9.9
10 leber hereditary optic neuropathy 9.2 MT-CYB NDUFB11
11 leigh syndrome 9.0 MT-CYB NDUFB11

Graphical network of the top 20 diseases related to Cardiomyopathy, Infantile Histiocytoid:



Diseases related to Cardiomyopathy, Infantile Histiocytoid

Symptoms & Phenotypes for Cardiomyopathy, Infantile Histiocytoid

Clinical features from OMIM:

500000

Drugs & Therapeutics for Cardiomyopathy, Infantile Histiocytoid

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Infantile Histiocytoid

Genetic Tests for Cardiomyopathy, Infantile Histiocytoid

Genetic tests related to Cardiomyopathy, Infantile Histiocytoid:

# Genetic test Affiliating Genes
1 Infantile Histiocytoid Cardiomyopathy 29

Anatomical Context for Cardiomyopathy, Infantile Histiocytoid

MalaCards organs/tissues related to Cardiomyopathy, Infantile Histiocytoid:

41
Heart

Publications for Cardiomyopathy, Infantile Histiocytoid

Articles related to Cardiomyopathy, Infantile Histiocytoid:

# Title Authors Year
1
A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation. ( 15164143 )
2004
2
Infantile histiocytoid cardiomyopathy: three cases and literature review. ( 7942464 )
1994
3
Infantile histiocytoid cardiomyopathy--myocardial or conduction system hamartoma: what is the cell type involved? ( 8244322 )
1993

Variations for Cardiomyopathy, Infantile Histiocytoid

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Infantile Histiocytoid:

75
# Symbol AA change Variation ID SNP ID
1 MT-CYB p.Gly251Asp VAR_013656 rs207460003

ClinVar genetic disease variations for Cardiomyopathy, Infantile Histiocytoid:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-CYB m.15498G> A single nucleotide variant Pathogenic rs207460003 GRCh37 Chromosome MT, 15498: 15498
2 MT-CYB m.15498G> A single nucleotide variant Pathogenic rs207460003 GRCh38 Chromosome MT, 15498: 15498
3 NDUFB11 NM_019056.6(NDUFB11): c.262C> T (p.Arg88Ter) single nucleotide variant Pathogenic rs786205225 GRCh37 Chromosome X, 47002089: 47002089
4 NDUFB11 NM_019056.6(NDUFB11): c.262C> T (p.Arg88Ter) single nucleotide variant Pathogenic rs786205225 GRCh38 Chromosome X, 47142690: 47142690
5 FAM135A NM_001105531.2(FAM135A): c.474C> G (p.Tyr158Ter) single nucleotide variant Likely benign rs748520978 GRCh37 Chromosome 6, 71186967: 71186967
6 FAM135A NM_001105531.2(FAM135A): c.474C> G (p.Tyr158Ter) single nucleotide variant Likely benign rs748520978 GRCh38 Chromosome 6, 70477264: 70477264

Expression for Cardiomyopathy, Infantile Histiocytoid

Search GEO for disease gene expression data for Cardiomyopathy, Infantile Histiocytoid.

Pathways for Cardiomyopathy, Infantile Histiocytoid

GO Terms for Cardiomyopathy, Infantile Histiocytoid

Cellular components related to Cardiomyopathy, Infantile Histiocytoid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.16 MT-CYB NDUFB11
2 mitochondrial inner membrane GO:0005743 8.96 MT-CYB NDUFB11
3 respiratory chain GO:0070469 8.62 MT-CYB NDUFB11

Biological processes related to Cardiomyopathy, Infantile Histiocytoid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 8.62 MT-CYB NDUFB11

Sources for Cardiomyopathy, Infantile Histiocytoid

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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