Histiocytoid cardiomyopathy

General Information (adopted from Orphanet):

Synonyms, Signs: Infantile xanthomatous cardiomyopathy
Infantile cardiomyopathy with histiocytoid change
Oncocytic cardiomyopathy
Foamy myocardial transformation of infancy
Number of Symptoms 30
OrphanetNr: 137675
OMIM Id: 212080
500000
ICD-10: I42.0
UMLs: C1708371
MeSH: C535584
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 1 of 100 000
Inheritance: X-linked dominant
Autosomal recessive
Sporadic
18473377 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Cardiomyopathy
 -Rare cardiac disease
Genetic cardiac rhythm disease
 -Rare cardiac disease
 -Rare genetic disease
Mitochondrial disease with dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Histiocytoid cardiomyopathy (HICMP) is a rare, genetic, cardiac disorder of infancy or childhood, predominantly affecting girls, and clinically manifesting as severe cardiac arrhythmias or dilated cardiomyopathy. Pathoanatomically, HICMP is characterized by subendocardial, epicardial, or valvular yellow-tan nodules, which are histologically built up of abnormal Purkinje fibers and multiple, scattered clusters of histiocytoid myocytes, which are filled with an increased number of normal or abnormal mitochondria. Within the myocardium, yellowish areas with irregular outlines are found and are histologically built up of enlarged, polygonal, histiocyte-like cells with foamy granular cytoplasm (PMID:18473377).

Symptom Information: Sort by abundance 

1
 (HPO:0008682) Acute tubular necrosis 10960495 IBIS 4 / 7739
2
 (HPO:0000568) Microphthalmia 18473377 IBIS 183 / 7739
3
 (HPO:0001087) Congenital glaucoma 8617487 IBIS 12 / 7739
4
 (HPO:0000659) Peters anomaly 8617487 IBIS 10 / 7739
5
 (HPO:0007957) Corneal opacity 18473377 IBIS 84 / 7739
6
 (HPO:0007770) Hypoplasia of the retina 18473377 IBIS 3 / 7739
7
 (HPO:0001397) Hepatic steatosis 10960495 IBIS 75 / 7739
8
 (HPO:0001716) Wolff-Parkinson-White syndrome 18473377 IBIS 21 / 7739
9
 (HPO:0001640) Cardiomegaly 25921236 IBIS 81 / 7739
10
 (HPO:0001629) Ventricular septal defect 21612852 IBIS 316 / 7739
11
 (HPO:0001631) Atria septal defect 21612852 IBIS 274 / 7739
12
 (HPO:0005150) Abnormal atrioventricular conduction 18473377 IBIS 16 / 7739
13
 (HPO:0001695) Cardiac arrest 18473377 IBIS 87 / 7739
14
 (HPO:0004756) Ventricular tachycardia 25921236 IBIS 55 / 7739
15
 (HPO:0004383) Hypoplastic left heart 10463272 IBIS 29 / 7739
16
 (HPO:0001663) Ventricular fibrillation 18473377 IBIS 35 / 7739
17
 (HPO:0001645) Sudden cardiac death 25921236 IBIS 84 / 7739
18
 (HPO:0005152) Oncocytic cardiomyopathy 6778813 IBIS 2 / 7739
19
 (HPO:0004755) Supraventricular tachycardia 10618346 IBIS 20 / 7739
20
 (HPO:0011675) Arrhythmia 18473377 IBIS 226 / 7739
21
 (HPO:0001706) Endocardial fibroelastosis 10695541 IBIS 20 / 7739
22
 (HPO:0001644) Dilated cardiomyopathy 18473377 IBIS 141 / 7739
23
 (HPO:0001637) Abnormality of the myocardium 10960495 IBIS 76 / 7739
24
 (HPO:0001635) Congestive heart failure 18473377 IBIS 232 / 7739
25
 (HPO:0011923) Decreased activity of mitochondrial complex I 15164143 IBIS 35 / 7739
26
 (HPO:0003756) Skeletal myopathy 8563940 IBIS 8 / 7739
27
 (HPO:0001274) Agenesis of corpus callosum 12900578 IBIS 142 / 7739
28
 (HPO:0030682) Left ventricular noncompaction 15892002 IBIS 4 / 7739
29
 (HPO:0040014) Increased mitochondrial number 15164143 IBIS 3 / 7739
30
 (HPO:0000238) Hydrocephalus 18473377 IBIS 278 / 7739

Associated genes:

MTCYB; MTTK; CACNA2D1; RANGRF;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
MT-CYB rs207460003 pathogenic RCV000010322.2

Additional Information: