MCID: END020
MIFTS: 46

Endocardial Fibroelastosis

Categories: Rare diseases, Cardiovascular diseases

Aliases & Classifications for Endocardial Fibroelastosis

MalaCards integrated aliases for Endocardial Fibroelastosis:

Name: Endocardial Fibroelastosis 53 12 72 49 28 51 41 14 69
Endomyocardial Fibroelastosis 55
Elastomyofibrosis 12
Efe 53

Characteristics:

Orphanet epidemiological data:

55
endomyocardial fibroelastosis
Inheritance: Autosomal recessive,Not applicable,X-linked dominant,X-linked recessive; Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal recessive
heterogeneous


HPO:

31
endocardial fibroelastosis:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 226000
Disease Ontology 12 DOID:12929
ICD10 32 I42.4
ICD9CM 34 425.3
MeSH 41 D004695
NCIt 46 C98922
SNOMED-CT 64 65457005
Orphanet 55 ORPHA2022
UMLS via Orphanet 70 C0014117
ICD10 via Orphanet 33 I42.4
MedGen 39 C0014117
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 aortic valve disease 2 and congestive heart failure, and has symptoms including congestive heart failure, cryptorchidism and seizures. 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, skin and kidney.

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 67)
# Related Disease Score Top Affiliating Genes
1 aortic valve disease 2 29.7 MYH7 NPPB
2 congestive heart failure 29.0 MYH7 NPPB
3 heart disease 28.9 MYH7 NPPB TAZ
4 atrial standstill 1 28.9 ACTN2 MYH7 NPPB TAZ
5 dilated cardiomyopathy 28.1 ACTN2 CSRP3 MYH7 NEBL NPPB TAZ
6 hydrocephalus, endocardial fibroelastosis, and cataracts 12.7
7 ulnar agenesis and endocardial fibroelastosis 12.3
8 endocardial fibroelastosis and coarctation of abdominal aorta 12.2
9 barth syndrome 11.4
10 endomyocardial fibroelastosis 11.2
11 faciocardiorenal syndrome 11.2
12 cardiomyopathy, infantile histiocytoid 11.2
13 arterial calcification of infancy 11.2
14 eosinophilic fasciitis 10.9
15 fetal erythroblastosis 10.9
16 peripartum cardiomyopathy 10.9
17 mumps 10.4
18 hypoplastic left heart syndrome 1 10.3
19 hypoplastic left heart syndrome 10.3
20 myocardial infarction 10.2
21 hydrops fetalis, nonimmune, and/or atrial septal defect 10.2
22 mucopolysaccharidosis-plus syndrome 10.2
23 pulmonary hypertension 10.2
24 atrioventricular block 10.2
25 myocarditis 10.2
26 hydrops fetalis 10.2
27 mucopolysaccharidosis type vi 10.1
28 aneurysm 10.1
29 leukemia, chronic lymphocytic 2 9.9
30 cardiac conduction defect 9.9
31 leukemia, chronic lymphocytic 9.9
32 corpus callosum, agenesis of, with facial anomalies and robin sequence 9.9
33 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 9.9
34 heart block, congenital 9.9
35 aging 9.9
36 asthma 9.9
37 renal dysplasia, cystic 9.9
38 cataract 9.9
39 hydrocephalus 9.9
40 leukemia 9.9
41 niemann-pick disease 9.9
42 anomalous left coronary artery from the pulmonary artery 9.9
43 thrombosis 9.9
44 sarcoma 9.9
45 pertussis 9.9
46 tetanus 9.9
47 atrial heart septal defect 9.9
48 tricuspid valve insufficiency 9.9
49 situs inversus 9.9
50 interstitial myocarditis 9.9

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:

53
Cardiac:
congestive heart failure
cardiomyopathy
endocardial fibroelastosis

Neuro:
hypothalamic dysfunction

GU:
cryptorchidism

HEENT:
unusual facial appearance


Clinical features from OMIM:

226000

Human phenotypes related to Endocardial Fibroelastosis:

55 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congestive heart failure 55 31 Very frequent (99-80%) HP:0001635
2 cryptorchidism 55 31 Frequent (79-30%) HP:0000028
3 endocardial fibroelastosis 55 31 Occasional (29-5%) HP:0001706
4 seizures 55 Frequent (79-30%)
5 abnormality of the helix 55 Very frequent (99-80%)
6 abnormal facial shape 31 HP:0001999
7 cognitive impairment 55 Very frequent (99-80%)
8 hypoglycemia 55 Very frequent (99-80%)
9 micrognathia 55 Very frequent (99-80%)
10 malformation of the heart and great vessels 55 Very frequent (99-80%)
11 cardiomyopathy 31 HP:0001638
12 anterior hypopituitarism 55 Frequent (79-30%)
13 telecanthus 55 Very frequent (99-80%)
14 low-set, posteriorly rotated ears 55 Very frequent (99-80%)
15 sandal gap 55 Very frequent (99-80%)
16 abnormality of the nervous system 31 HP:0000707
17 hypoplasia of penis 55 Frequent (79-30%)
18 abnormality of the palate 55 Very frequent (99-80%)
19 restrictive cardiomyopathy 55 Very frequent (99-80%)

Drugs & Therapeutics for Endocardial Fibroelastosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle 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:

# Genetic test Affiliating Genes
1 Endocardial Fibroelastosis 28

Anatomical Context for Endocardial Fibroelastosis

MalaCards organs/tissues related to Endocardial Fibroelastosis:

38
Heart, Skin, Kidney, Testes, Endothelial

Publications for Endocardial Fibroelastosis

Articles related to Endocardial Fibroelastosis:

(show top 50) (show all 306)
# Title Authors Year
1
Endocardial Fibroelastosis is Secondary to Hemodynamic Alterations in the Chick Embryonic Model of Hypoplastic Left Heart Syndrome. ( 28543854 )
2017
2
Fibroblasts in an endocardial fibroelastosis disease model mainly originate from mesenchymal derivatives of epicardium. ( 28809397 )
2017
3
Endocardial fibroelastosis in two related tiger cubs (Panthera tigris). ( 29289677 )
2017
4
Misdiagnosed anomalous left coronary artery from the pulmonary artery as endocardial fibroelastosis in infancy: A case series. ( 28614263 )
2017
5
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
6
Peeling the left ventricle as treatment for endocardial fibroelastosis: An exceptional surgical procedure in adults. ( 28732708 )
2017
7
Surgical management of adult endocardial fibroelastosis. ( 28668457 )
2017
8
Approach an appropriate decision on fetus with endocardial fibroelastosis in collaboration with cardiovascular profile score: A case report. ( 27472683 )
2016
9
Ethical considerations of transparency, informed consent, and nudging in a patient with paediatric aortic stenosis and symptomatic left ventricular endocardial fibroelastosis. ( 28148333 )
2016
10
A mouse model of endocardial fibroelastosis. ( 26363814 )
2015
11
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
12
Endocardial fibroelastosis is caused by aberrant endothelial to mesenchymal transition. ( 25587097 )
2015
13
Unexpected autopsy findings after sudden cardiac death: Cardiovascular myxoedema and endocardial fibroelastosis. ( 25585372 )
2015
14
Prenatal assessment of ventriculocoronary connections and ventricular endocardial fibroelastosis in hypoplastic left heart. ( 24854131 )
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
Primary Endocardial Fibroelastosis and Nonimmune Hydrops Fetalis: Case Report with Autopsy. ( 25517884 )
2014
17
An animal model of endocardial fibroelastosis. ( 22938709 )
2013
18
Increased fetal endocardial echogenicity mimicking endocardial fibroelastosis following maternal organophosphorus poisoning and its complete regression in utero. ( 24347859 )
2013
19
Primary endocardial fibroelastosis: an underappreciated cause of cardiomyopathy in children. ( 23518027 )
2013
20
Endocardial fibroelastosis in a quarterhorse mare. ( 23651694 )
2013
21
Secondary endocardial fibroelastosis in an adult: three-year follow-up by cardiac magnetic resonance imaging. ( 23109789 )
2012
22
Primary endocardial fibroelastosis of the left ventricle. ( 23304055 )
2012
23
Primary endocardial fibroelastosis presenting in a young child as incessant ventricular tachycardia and dilated cardiomyopathy. ( 23109776 )
2012
24
Endocardial fibroelastosis of the heart. ( 22217671 )
2012
25
Fetal echocardiographic assessment of endocardial fibroelastosis in maternal anti-SSA antibody-associated complete heart block. ( 21436591 )
2011
26
The myocardium of fetuses with endocardial fibroelastosis contains fewer B and T lymphocytes than normal control myocardium. ( 21484220 )
2011
27
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
28
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
29
Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis. ( 20951326 )
2010
30
Endocardial fibroelastosis of the right ventricle and tricuspid valve in a young adult with Behcet's disease. ( 20202032 )
2010
31
Echocardiographic evaluation of fetal cardiac function: clinical and anatomical correlations in two cases of endocardial fibroelastosis. ( 20395675 )
2010
32
Assessment of left ventricular endocardial fibroelastosis in fetuses with aortic stenosis and evolving hypoplastic left heart syndrome. ( 21126622 )
2010
33
Electrical dyssynchrony and endocardial fibroelastosis resection in the rehabilitation of hypoplastic left cardiac syndrome. ( 20529397 )
2010
34
Microdeletion of 16p11.2 associated with endocardial fibroelastosis. ( 20683992 )
2010
35
Endocardial fibroelastosis in a 57-year-old transplant recipient. ( 20421963 )
2010
36
Changing concepts of endocardial fibroelastosis. ( 20346203 )
2010
37
Placental immaturity, endocardial fibroelastosis and fetal hypoxia. ( 19752510 )
2009
38
Dilated form of endocardial fibroelastosis as a result of deficiency in respiratory-chain complexes I and IV. ( 19667241 )
2009
39
Positive maternal anti-SSA/SSB antibody-related fetal right ventricular endocardial fibroelastosis without atrioventricular block, reversal of endocardial fibroelastosis. ( 19090488 )
2009
40
Endocardial fibroelastosis in dilated cardiomyopathy in a 28-year-old transplant recipient. ( 18826986 )
2009
41
[Preliminary study on the effect of carvedilol on children with primary endocardial fibroelastosis]. ( 19099859 )
2008
42
Sudden infant death from dilated cardiomyopathy with endocardial fibroelastosis. ( 18442941 )
2008
43
Assessment of endocardial fibroelastosis by cardiac MRI. ( 18464952 )
2008
44
MR findings of endocardial fibroelastosis in children. ( 18172637 )
2008
45
Endocardial fibroelastosis demonstrated on multidetector computed tomography. ( 17363092 )
2008
46
Primary endocardial fibroelastosis with dilated cardiomyopathy: report of one case. ( 18265543 )
2007
47
X-linked cardiomyopathy presenting as contracted endocardial fibroelastosis. ( 17346634 )
2007
48
Unusual case of an 18-year-old heart transplant recipient with endocardial fibroelastosis. ( 16797345 )
2006
49
Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure. ( 17019812 )
2006
50
Fetal Doppler echocardiographic diagnosis and successful steroid therapy of Luciani-Wenckebach phenomenon and endocardial fibroelastosis related to maternal anti-Ro and anti-La antibodies. ( 15846168 )
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:

# 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:

# 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:

# 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 muscle contraction GO:0006936 9.13 ACTN2 MYH7 TAZ
6 cardiac muscle contraction GO:0060048 8.8 CSRP3 MYH7 TAZ

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.33 ACTN2 MYH7 NEBL
2 cytoskeletal protein binding GO:0008092 9.26 ACTN2 NEBL
3 actin binding GO:0003779 9.26 ACTN2 CSRP3 MYH7 NEBL
4 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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