MCID: END020
MIFTS: 45

Endocardial Fibroelastosis

Categories: Rare diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Endocardial Fibroelastosis

MalaCards integrated aliases for Endocardial Fibroelastosis:

Name: Endocardial Fibroelastosis 54 12 50 24 29 52 42 14 69
Endomyocardial Fibroelastosis 56
Elastomyofibrosis 12

Characteristics:

Orphanet epidemiological data:

56
endomyocardial fibroelastosis
Inheritance: Autosomal recessive,Not applicable,X-linked dominant,X-linked recessive; Age of onset: Neonatal;

OMIM:

54
Inheritance:
autosomal recessive
heterogeneous


HPO:

32
endocardial fibroelastosis:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 226000
Disease Ontology 12 DOID:12929
ICD10 33 I42.4
ICD9CM 35 425.3
MeSH 42 D004695
NCIt 47 C98922
SNOMED-CT 64 65457005
Orphanet 56 ORPHA2022
UMLS via Orphanet 70 C0014117
ICD10 via Orphanet 34 I42.4
UMLS 69 C0014117

Summaries for Endocardial Fibroelastosis

Disease Ontology : 12 An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers.

MalaCards based summary : Endocardial Fibroelastosis, also known as endomyocardial fibroelastosis, is related to hydrocephalus, endocardial fibroelastosis, and cataracts and endomyocardial fibroelastosis, and has symptoms including cryptorchidism, congestive heart failure and cognitive impairment. An important gene associated with Endocardial Fibroelastosis is TAZ (Tafazzin), and among its related pathways/superpathways are Cardiac muscle contraction and Cardiomyocyte Differentiation through BMP Receptors. Affiliated tissues include heart, kidney and skin.

Wikipedia : 72 Endocardial fibroelastosis (EFE) is a rare heart disorder usually occurring in children two years old... more...

Description from OMIM: 226000

Related Diseases for Endocardial Fibroelastosis

Diseases related to Endocardial Fibroelastosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
id Related Disease Score Top Affiliating Genes
1 hydrocephalus, endocardial fibroelastosis, and cataracts 12.5
2 endomyocardial fibroelastosis 12.2
3 barth syndrome 11.9
4 arterial calcification of infancy 11.1
5 infantile histiocytoid cardiomyopathy 11.1
6 faciocardiorenal syndrome 11.1
7 cardiomyopathy 10.4
8 mumps 10.3
9 dilated cardiomyopathy 10.3
10 hypoplastic left heart syndrome 10.2
11 myocardial infarction 10.1
12 pulmonary hypertension 10.1
13 myocarditis 10.1
14 hydrops fetalis 10.1
15 atrioventricular block 10.1
16 heart disease 10.0
17 congestive heart failure 10.0
18 mucopolysaccharidosis type vi 10.0
19 aneurysm 10.0
20 pertussis 9.8
21 anoxia 9.8
22 tetanus 9.8
23 hypoxia 9.8
24 cataract 9.8
25 multicystic dysplastic kidney 9.8
26 chronic lymphocytic leukemia 9.8
27 tricuspid valve insufficiency 9.8
28 endotheliitis 9.8
29 situs inversus 9.8
30 interstitial myocarditis 9.8
31 hydrocephalus 9.8
32 dextrocardia 9.8
33 leukemia 9.8
34 niemann-pick disease 9.8
35 hypoplastic right heart syndrome 9.8
36 asthma 9.8
37 anomalous left coronary artery from the pulmonary artery 9.8
38 transposition of the great arteries 9.8
39 pick disease 9.8
40 thrombosis 9.8
41 sudden cardiac death 9.8
42 sarcoma 9.8
43 macroglossia 9.6 MYH7 NPPB
44 artery disease 9.6 MYH7 NPPB
45 autoimmune disease of skin and connective tissue 9.6 CSRP3 MYH7 TAZ
46 cardiomyopathy, hypertrophic 6 9.6 MYH7 NPPB
47 ventricular tachycardia, catecholaminergic polymorphic, 1 9.5 MYH7 NPPB
48 malignant pineal area germ cell neoplasm 9.5 MYH7 NPPB
49 craniosynostosis 7 9.4 MYH7 NPPB
50 craniosynostosis 9.4 MYH7 NPPB

Graphical network of the top 20 diseases related to Endocardial Fibroelastosis:



Diseases related to Endocardial Fibroelastosis

Symptoms & Phenotypes for Endocardial Fibroelastosis

Symptoms via clinical synopsis from OMIM:

54

GU:
cryptorchidism

Neuro:
hypothalamic dysfunction

Cardiac:
cardiomyopathy
endocardial fibroelastosis
congestive heart failure

HEENT:
unusual facial appearance


Clinical features from OMIM:

226000

Human phenotypes related to Endocardial Fibroelastosis:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
2 endocardial fibroelastosis 56 32 Occasional (29-5%) HP:0001706
3 congestive heart failure 56 32 Very frequent (99-80%) HP:0001635
4 cognitive impairment 56 Very frequent (99-80%)
5 seizures 56 Frequent (79-30%)
6 micrognathia 56 Very frequent (99-80%)
7 telecanthus 56 Very frequent (99-80%)
8 hypoglycemia 56 Very frequent (99-80%)
9 cardiomyopathy 32 HP:0001638
10 low-set, posteriorly rotated ears 56 Very frequent (99-80%)
11 sandal gap 56 Very frequent (99-80%)
12 restrictive cardiomyopathy 56 Very frequent (99-80%)
13 hypoplasia of penis 56 Frequent (79-30%)
14 abnormality of the helix 56 Very frequent (99-80%)
15 abnormal facial shape 32 HP:0001999
16 malformation of the heart and great vessels 56 Very frequent (99-80%)
17 anterior hypopituitarism 56 Frequent (79-30%)
18 abnormality of the nervous system 32 HP:0000707
19 abnormality of the palate 56 Very frequent (99-80%)

Drugs & Therapeutics for Endocardial Fibroelastosis

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Not yet recruiting NCT03079401 Phase 1, Phase 2
2 Cardiac Computed Tomography: Characteristics of Isolated Left Ventricular Non-compaction Completed NCT01470014

Search NIH Clinical Center for Endocardial Fibroelastosis

Cochrane evidence based reviews: endocardial fibroelastosis

Genetic Tests for Endocardial Fibroelastosis

Genetic tests related to Endocardial Fibroelastosis:

id Genetic test Affiliating Genes
1 Endocardial Fibroelastosis 29 24 TAZ

Anatomical Context for Endocardial Fibroelastosis

MalaCards organs/tissues related to Endocardial Fibroelastosis:

39
Heart, Kidney, Skin, Testes, Endothelial

Publications for Endocardial Fibroelastosis

Articles related to Endocardial Fibroelastosis:

(show top 50) (show all 305)
id Title Authors Year
1
Fibroblasts in an endocardial fibroelastosis disease model mainly originate from mesenchymal derivatives of epicardium. ( 28809397 )
2017
2
Endocardial Fibroelastosis of the Left Ventricle Affects Right Ventricular Performance in Fetuses with Hypoplastic Left Heart Syndrome: A Prospective Study Using M-Mode, PW- and Tissue Doppler Techniques. ( 28683514 )
2017
3
Peeling the left ventricle as treatment for endocardial fibroelastosis: An exceptional surgical procedure in adults. ( 28732708 )
2017
4
Endocardial Fibroelastosis is Secondary to Hemodynamic Alterations in the Chick Embryonic Model of Hypoplastic Left Heart Syndrome. ( 28543854 )
2017
5
Misdiagnosed anomalous left coronary artery from the pulmonary artery as endocardial fibroelastosis in infancy: A case series. ( 28614263 )
2017
6
Surgical management of adult endocardial fibroelastosis. ( 28668457 )
2017
7
Ethical considerations of transparency, informed consent, and nudging in a patient with paediatric aortic stenosis and symptomatic left ventricular endocardial fibroelastosis. ( 28148333 )
2016
8
Approach an appropriate decision on fetus with endocardial fibroelastosis in collaboration with cardiovascular profile score: A case report. ( 27472683 )
2016
9
Unexpected autopsy findings after sudden cardiac death: Cardiovascular myxoedema and endocardial fibroelastosis. ( 25585372 )
2015
10
A mouse model of endocardial fibroelastosis. ( 26363814 )
2015
11
Endocardial fibroelastosis is caused by aberrant endothelial to mesenchymal transition. ( 25587097 )
2015
12
Distention of the Immature Left Ventricle Triggers Development of Endocardial Fibroelastosis: An Animal Model of Endocardial Fibroelastosis Introducing Morphopathological Features of Evolving Fetal Hypoplastic Left Heart Syndrome. ( 26064914 )
2015
13
Prenatal assessment of ventriculocoronary connections and ventricular endocardial fibroelastosis in hypoplastic left heart. ( 24854131 )
2014
14
Primary Endocardial Fibroelastosis and Nonimmune Hydrops Fetalis: Case Report with Autopsy. ( 25517884 )
2014
15
Neonatal Ross-Konno operation and endocardial fibroelastosis resection after foetal percutaneous aortic valve balloon valvuloplasty: a complex approach to rescue the left heart. ( 24627438 )
2014
16
An animal model of endocardial fibroelastosis. ( 22938709 )
2013
17
Primary endocardial fibroelastosis: an underappreciated cause of cardiomyopathy in children. ( 23518027 )
2013
18
Endocardial fibroelastosis in a quarterhorse mare. ( 23651694 )
2013
19
Increased fetal endocardial echogenicity mimicking endocardial fibroelastosis following maternal organophosphorus poisoning and its complete regression in utero. ( 24347859 )
2013
20
Secondary endocardial fibroelastosis in an adult: three-year follow-up by cardiac magnetic resonance imaging. ( 23109789 )
2012
21
Primary endocardial fibroelastosis presenting in a young child as incessant ventricular tachycardia and dilated cardiomyopathy. ( 23109776 )
2012
22
Primary endocardial fibroelastosis of the left ventricle. ( 23304055 )
2012
23
Endocardial fibroelastosis of the heart. ( 22217671 )
2012
24
Ross-Konno and endocardial fibroelastosis resection after hybrid stage I palliation in infancy: successful staged left-ventricular rehabilitation and conversion to biventricular circulation after fetal diagnosis of aortic stenosis. ( 21107553 )
2011
25
A new presentation of neonatal lupus: 5 cases of isolated mild endocardial fibroelastosis associated with maternal Anti-SSA/Ro and Anti-SSB/La antibodies. ( 21078712 )
2011
26
The myocardium of fetuses with endocardial fibroelastosis contains fewer B and T lymphocytes than normal control myocardium. ( 21484220 )
2011
27
Fetal echocardiographic assessment of endocardial fibroelastosis in maternal anti-SSA antibody-associated complete heart block. ( 21436591 )
2011
28
Echocardiographic evaluation of fetal cardiac function: clinical and anatomical correlations in two cases of endocardial fibroelastosis. ( 20395675 )
2010
29
Assessment of left ventricular endocardial fibroelastosis in fetuses with aortic stenosis and evolving hypoplastic left heart syndrome. ( 21126622 )
2010
30
Microdeletion of 16p11.2 associated with endocardial fibroelastosis. ( 20683992 )
2010
31
Electrical dyssynchrony and endocardial fibroelastosis resection in the rehabilitation of hypoplastic left cardiac syndrome. ( 20529397 )
2010
32
Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis. ( 20951326 )
2010
33
Endocardial fibroelastosis of the right ventricle and tricuspid valve in a young adult with Behcet's disease. ( 20202032 )
2010
34
Changing concepts of endocardial fibroelastosis. ( 20346203 )
2010
35
Endocardial fibroelastosis in a 57-year-old transplant recipient. ( 20421963 )
2010
36
Dilated form of endocardial fibroelastosis as a result of deficiency in respiratory-chain complexes I and IV. ( 19667241 )
2009
37
Endocardial fibroelastosis in dilated cardiomyopathy in a 28-year-old transplant recipient. ( 18826986 )
2009
38
Positive maternal anti-SSA/SSB antibody-related fetal right ventricular endocardial fibroelastosis without atrioventricular block, reversal of endocardial fibroelastosis. ( 19090488 )
2009
39
Placental immaturity, endocardial fibroelastosis and fetal hypoxia. ( 19752510 )
2009
40
[Preliminary study on the effect of carvedilol on children with primary endocardial fibroelastosis]. ( 19099859 )
2008
41
Assessment of endocardial fibroelastosis by cardiac MRI. ( 18464952 )
2008
42
Endocardial fibroelastosis demonstrated on multidetector computed tomography. ( 17363092 )
2008
43
Sudden infant death from dilated cardiomyopathy with endocardial fibroelastosis. ( 18442941 )
2008
44
MR findings of endocardial fibroelastosis in children. ( 18172637 )
2008
45
Primary endocardial fibroelastosis with dilated cardiomyopathy: report of one case. ( 18265543 )
2007
46
X-linked cardiomyopathy presenting as contracted endocardial fibroelastosis. ( 17346634 )
2007
47
Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure. ( 17019812 )
2006
48
Unusual case of an 18-year-old heart transplant recipient with endocardial fibroelastosis. ( 16797345 )
2006
49
Early prenatal diagnosis of endocardial fibroelastosis. ( 15988785 )
2005
50
Usefulness of magnetic resonance imaging of left ventricular endocardial fibroelastosis in infants after fetal intervention for aortic valve stenosis. ( 16310442 )
2005

Variations for Endocardial Fibroelastosis

Expression for Endocardial Fibroelastosis

Search GEO for disease gene expression data for Endocardial Fibroelastosis.

Pathways for Endocardial Fibroelastosis

Pathways related to Endocardial Fibroelastosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.85 MT-CYB MYH7
2 9.97 MYH7 NPPB

GO Terms for Endocardial Fibroelastosis

Cellular components related to Endocardial Fibroelastosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 stress fiber GO:0001725 9.16 MYH7 NEBL
2 sarcomere GO:0030017 9.13 ACTN2 CSRP3 MYH7
3 Z disc GO:0030018 8.92 ACTN2 CSRP3 MYH7 NEBL

Biological processes related to Endocardial Fibroelastosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 skeletal muscle tissue development GO:0007519 9.37 CSRP3 TAZ
2 muscle filament sliding GO:0030049 9.32 ACTN2 MYH7
3 cardiac muscle tissue development GO:0048738 9.26 CSRP3 TAZ
4 regulation of the force of heart contraction GO:0002026 9.16 CSRP3 MYH7
5 response to organic cyclic compound GO:0014070 9.13 MT-CYB
6 muscle contraction GO:0006936 9.13 ACTN2 MYH7 TAZ
7 response to calcium ion GO:0051592 9.1 MT-CYB
8 cardiac muscle contraction GO:0060048 8.8 CSRP3 MYH7 TAZ

Molecular functions related to Endocardial Fibroelastosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.26 ACTN2 CSRP3 MYH7 NEBL
2 cytoskeletal protein binding GO:0008092 9.16 ACTN2 NEBL
3 structural constituent of muscle GO:0008307 8.8 ACTN2 CSRP3 NEBL

Sources for Endocardial Fibroelastosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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