EFE
MCID: END020
MIFTS: 47

Endocardial Fibroelastosis (EFE)

Categories: Cardiovascular diseases, Rare diseases

Aliases & Classifications for Endocardial Fibroelastosis

MalaCards integrated aliases for Endocardial Fibroelastosis:

Name: Endocardial Fibroelastosis 58 12 77 54 60 30 56 6 45 15 17 74
Endomyocardial Fibroelastosis 54 60
Elastomyofibrosis 12
Efe 58

Characteristics:

Orphanet epidemiological data:

60
endocardial fibroelastosis
Inheritance: Autosomal recessive,Not applicable,X-linked dominant,X-linked recessive; Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive
heterogeneous


HPO:

33
endocardial fibroelastosis:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Endocardial Fibroelastosis

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2022Disease definitionEndomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.EpidemiologyThe incidence at birth is estimated at 1 in 5 000.Clinical descriptionIn the majority of cases, endomyocardial fibroelastosis is diagnosed at between 3 and 6 months of age. The cardiac insufficiency may be acute with a severe prognosis or chronic.EtiologyThe underlying cause of the sporadic cases is unknown: it may be associated with an antenatal viral infection, subendocardial ischemia or metabolic anomalies.Genetic counselingThe primary form is mainly sporadic but 10% of cases are familial with all possible modes of transmission (autosomal dominant, autosomal recessive, X-linked).Management and treatmentTreatment is the same as that used for cardiac insufficiency.Visit the Orphanet disease page for more resources.

MalaCards based summary : Endocardial Fibroelastosis, also known as endomyocardial fibroelastosis, is related to atrial standstill 1 and dilated cardiomyopathy. An important gene associated with Endocardial Fibroelastosis is TAZ (Tafazzin). The drugs Levodopa and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and prostate, and related phenotypes are abnormality of the helix and cognitive impairment

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.

Wikipedia : 77 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 139)
# Related Disease Score Top Affiliating Genes
1 atrial standstill 1 29.4 ACTN2 CSRP3 MYH7 TAZ
2 dilated cardiomyopathy 29.2 ACTN2 CSRP3 MYH7 NEBL TAZ
3 hydrocephalus, endocardial fibroelastosis, and cataracts 12.9
4 ulnar agenesis and endocardial fibroelastosis 12.5
5 endocardial fibroelastosis and coarctation of abdominal aorta 12.4
6 barth syndrome 11.9
7 eosinophilic fasciitis 11.4
8 faciocardiorenal syndrome 11.4
9 cardiomyopathy, infantile histiocytoid 11.4
10 arterial calcification of infancy 11.4
11 fetal erythroblastosis 11.1
12 peripartum cardiomyopathy 11.1
13 eosinophilic pustular folliculitis 11.1
14 polycystic kidney disease 10.6
15 mumps 10.6
16 hypoplastic left heart syndrome 1 10.4
17 hypoplastic left heart syndrome 10.4
18 aortic valve disease 2 10.4
19 myocarditis 10.4
20 rere-related disorders 10.4
21 myocardial infarction 10.3
22 lymphatic malformation 7 10.3
23 mucopolysaccharidosis-plus syndrome 10.3
24 pulmonary hypertension 10.3
25 atrioventricular block 10.3
26 fetal edema 10.3
27 hydrops fetalis 10.3
28 mucopolysaccharidosis, type vi 10.2
29 congestive heart failure 10.2
30 glycogen storage disease 10.2
31 heart disease 10.2
32 colorectal adenoma 10.2
33 chronic interstitial cystitis 10.2
34 endometriosis 10.2
35 helix syndrome 10.1
36 epilepsy 10.1
37 leukemia, chronic lymphocytic 2 10.1
38 cardiac conduction defect 10.1
39 leukemia, chronic lymphocytic 10.1
40 corpus callosum, agenesis of, with facial anomalies and robin sequence 10.1
41 heart block, congenital 10.1
42 asthma 10.1
43 renal dysplasia, cystic 10.1
44 cardiomyopathy, dilated, 1m 10.1
45 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction 10.1
46 cataract 10.1
47 hydrocephalus 10.1
48 leukemia 10.1
49 niemann-pick disease 10.1
50 anomalous left coronary artery from the pulmonary artery 10.1

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



Diseases related to Endocardial Fibroelastosis

Symptoms & Phenotypes for Endocardial Fibroelastosis

Human phenotypes related to Endocardial Fibroelastosis:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the helix 60 33 hallmark (90%) Very frequent (99-80%) HP:0011039
2 cognitive impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0100543
3 hypoglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001943
4 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
5 congestive heart failure 60 33 hallmark (90%) Very frequent (99-80%) HP:0001635
6 telecanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000506
7 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
8 sandal gap 60 33 hallmark (90%) Very frequent (99-80%) HP:0001852
9 abnormal palate morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0000174
10 restrictive cardiomyopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001723
11 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
12 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
13 anterior hypopituitarism 60 33 frequent (33%) Frequent (79-30%) HP:0000830
14 hypoplasia of penis 60 33 frequent (33%) Frequent (79-30%) HP:0008736
15 endocardial fibroelastosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001706
16 abnormal facial shape 33 HP:0001999
17 malformation of the heart and great vessels 60 Very frequent (99-80%)
18 cardiomyopathy 33 HP:0001638
19 abnormality of the nervous system 33 HP:0000707

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
congestive heart failure
cardiomyopathy
endocardial fibroelastosis

Neuro:
hypothalamic dysfunction

G U:
cryptorchidism

H E E N T:
unusual facial appearance

Clinical features from OMIM:

226000

Drugs & Therapeutics for Endocardial Fibroelastosis

Drugs for Endocardial Fibroelastosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levodopa Approved 59-92-7 6047
2
Dopamine Approved 62-31-7, 51-61-6 681
3
Cabergoline Approved 81409-90-7 54746
4 Cardiotonic Agents
5 Sympathomimetics
6 Protective Agents
7 Peripheral Nervous System Agents
8 Neurotransmitter Agents
9 Dopamine agonists
10 Dopamine Agents
11 Autonomic Agents

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 The Association Between Dopamine Agonists and Cardiac Valvulopathy, Fibrosis and Other Cardiopulmonary Events Completed NCT01052948
3 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 30

Anatomical Context for Endocardial Fibroelastosis

MalaCards organs/tissues related to Endocardial Fibroelastosis:

42
Heart, Kidney, Prostate, T Cells, Skin, Testes, Endothelial

Publications for Endocardial Fibroelastosis

Articles related to Endocardial Fibroelastosis:

(show top 50) (show all 324)
# Title Authors Year
1
Dilated cardiomyopathy with endocardial fibroelastosis in a juvenile Pallas cat. ( 30694111 )
2019
2
Endocardial Fibroelastosis is Secondary to Hemodynamic Alterations in the Chick Embryonic Model of Hypoplastic Left Heart Syndrome. ( 28543854 )
2018
3
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 )
2018
4
Endocardial fibroelastosis in two related tiger cubs (Panthera tigris). ( 29289677 )
2018
5
Concurrent occurrence of acute bovine pulmonary edema and emphysema and endocardial fibroelastosis in cattle: A case history and literature review. ( 30147268 )
2018
6
Misdiagnosed anomalous left coronary artery from the pulmonary artery as endocardial fibroelastosis in infancy: A case series. ( 28614263 )
2017
7
Surgical management of adult endocardial fibroelastosis. ( 28668457 )
2017
8
Peeling the left ventricle as treatment for endocardial fibroelastosis: An exceptional surgical procedure in adults. ( 28732708 )
2017
9
Fibroblasts in an endocardial fibroelastosis disease model mainly originate from mesenchymal derivatives of epicardium. ( 28809397 )
2017
10
Multimodality Imaging and Pathologic Assessment in an Adult with Endocardial Fibroelastosis. ( 30062275 )
2017
11
Knock-out of nexilin in mice leads to dilated cardiomyopathy and endomyocardial fibroelastosis. ( 26659360 )
2016
12
Approach an appropriate decision on fetus with endocardial fibroelastosis in collaboration with cardiovascular profile score: A case report. ( 27472683 )
2016
13
Ethical considerations of transparency, informed consent, and nudging in a patient with paediatric aortic stenosis and symptomatic left ventricular endocardial fibroelastosis. ( 28148333 )
2016
14
Primary endocardial fibroelastosis and nonimmune hydrops fetalis: case report with autopsy. ( 25517884 )
2015
15
Unexpected autopsy findings after sudden cardiac death: cardiovascular myxoedema and endocardial fibroelastosis. ( 25585372 )
2015
16
Endocardial fibroelastosis is caused by aberrant endothelial to mesenchymal transition. ( 25587097 )
2015
17
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
18
A mouse model of endocardial fibroelastosis. ( 26363814 )
2015
19
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
20
Prenatal assessment of ventriculocoronary connections and ventricular endocardial fibroelastosis in hypoplastic left heart. ( 24854131 )
2014
21
An animal model of endocardial fibroelastosis. ( 22938709 )
2013
22
Primary endocardial fibroelastosis: an underappreciated cause of cardiomyopathy in children. ( 23518027 )
2013
23
Endocardial fibroelastosis in a quarterhorse mare. ( 23651694 )
2013
24
Increased fetal endocardial echogenicity mimicking endocardial fibroelastosis following maternal organophosphorus poisoning and its complete regression in utero. ( 24347859 )
2013
25
Primary endocardial fibroelastosis presenting in a young child as incessant ventricular tachycardia and dilated cardiomyopathy. ( 23109776 )
2012
26
Endocardial fibroelastosis of the heart. ( 22217671 )
2012
27
Secondary endocardial fibroelastosis in an adult: three-year follow-up by cardiac magnetic resonance imaging. ( 23109789 )
2012
28
Primary endocardial fibroelastosis of the left ventricle. ( 23304055 )
2012
29
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
30
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
31
Fetal echocardiographic assessment of endocardial fibroelastosis in maternal anti-SSA antibody-associated complete heart block. ( 21436591 )
2011
32
The myocardium of fetuses with endocardial fibroelastosis contains fewer B and T lymphocytes than normal control myocardium. ( 21484220 )
2011
33
Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis. ( 20951326 )
2010
34
Endocardial fibroelastosis of the right ventricle and tricuspid valve in a young adult with Behcet's disease. ( 20202032 )
2010
35
Changing concepts of endocardial fibroelastosis. ( 20346203 )
2010
36
Echocardiographic evaluation of fetal cardiac function: clinical and anatomical correlations in two cases of endocardial fibroelastosis. ( 20395675 )
2010
37
Endocardial fibroelastosis in a 57-year-old transplant recipient. ( 20421963 )
2010
38
Electrical dyssynchrony and endocardial fibroelastosis resection in the rehabilitation of hypoplastic left cardiac syndrome. ( 20529397 )
2010
39
Microdeletion of 16p11.2 associated with endocardial fibroelastosis. ( 20683992 )
2010
40
Assessment of left ventricular endocardial fibroelastosis in fetuses with aortic stenosis and evolving hypoplastic left heart syndrome. ( 21126622 )
2010
41
Positive maternal anti-SSA/SSB antibody-related fetal right ventricular endocardial fibroelastosis without atrioventricular block, reversal of endocardial fibroelastosis. ( 19090488 )
2009
42
Endocardial fibroelastosis in dilated cardiomyopathy in a 28-year-old transplant recipient. ( 18826986 )
2009
43
Dilated form of endocardial fibroelastosis as a result of deficiency in respiratory-chain complexes I and IV. ( 19667241 )
2009
44
Placental immaturity, endocardial fibroelastosis and fetal hypoxia. ( 19752510 )
2009
45
Sudden infant death from dilated cardiomyopathy with endocardial fibroelastosis. ( 18442941 )
2008
46
Endocardial fibroelastosis demonstrated on multidetector computed tomography. ( 17363092 )
2008
47
MR findings of endocardial fibroelastosis in children. ( 18172637 )
2008
48
Assessment of endocardial fibroelastosis by cardiac MRI. ( 18464952 )
2008
49
[Preliminary study on the effect of carvedilol on children with primary endocardial fibroelastosis]. ( 19099859 )
2008
50
Primary endocardial fibroelastosis with dilated cardiomyopathy: report of one case. ( 18265543 )
2007

Variations for Endocardial Fibroelastosis

ClinVar genetic disease variations for Endocardial Fibroelastosis:

6 (show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 TAZ NM_000116.4(TAZ): c.383T> C (p.Phe128Ser) single nucleotide variant Benign/Likely benign rs146934311 GRCh37 Chromosome X, 153642450: 153642450
2 TAZ NM_000116.4(TAZ): c.383T> C (p.Phe128Ser) single nucleotide variant Benign/Likely benign rs146934311 GRCh38 Chromosome X, 154414113: 154414113
3 TAZ NM_000116.4(TAZ): c.535C> G (p.Pro179Ala) single nucleotide variant Uncertain significance rs397515744 GRCh37 Chromosome X, 153647956: 153647956
4 TAZ NM_000116.4(TAZ): c.535C> G (p.Pro179Ala) single nucleotide variant Uncertain significance rs397515744 GRCh38 Chromosome X, 154419617: 154419617
5 TAZ NM_000116.4(TAZ): c.873G> A (p.Gly291=) single nucleotide variant Benign/Likely benign rs35902788 GRCh37 Chromosome X, 153649337: 153649337
6 TAZ NM_000116.4(TAZ): c.873G> A (p.Gly291=) single nucleotide variant Benign/Likely benign rs35902788 GRCh38 Chromosome X, 154420998: 154420998
7 TAZ NM_000116.4(TAZ): c.*560G> A single nucleotide variant Likely benign rs782808430 GRCh37 Chromosome X, 153649903: 153649903
8 TAZ NM_000116.4(TAZ): c.*560G> A single nucleotide variant Likely benign rs782808430 GRCh38 Chromosome X, 154421564: 154421564
9 TAZ NM_000116.3(TAZ): c.-120delT deletion Benign rs11388353 GRCh37 Chromosome X, 153640061: 153640061
10 TAZ NM_000116.4(TAZ): c.504G> A (p.Lys168=) single nucleotide variant Conflicting interpretations of pathogenicity rs1057515818 GRCh37 Chromosome X, 153647925: 153647925
11 TAZ NM_000116.4(TAZ): c.504G> A (p.Lys168=) single nucleotide variant Conflicting interpretations of pathogenicity rs1057515818 GRCh38 Chromosome X, 154419586: 154419586
12 TAZ NM_000116.4(TAZ): c.675G> A (p.Pro225=) single nucleotide variant Benign/Likely benign rs201046790 GRCh37 Chromosome X, 153648579: 153648579
13 TAZ NM_000116.4(TAZ): c.675G> A (p.Pro225=) single nucleotide variant Benign/Likely benign rs201046790 GRCh38 Chromosome X, 154420240: 154420240
14 TAZ NM_000116.4(TAZ): c.*396C> T single nucleotide variant Likely benign rs144283894 GRCh37 Chromosome X, 153649739: 153649739
15 TAZ NM_000116.4(TAZ): c.*396C> T single nucleotide variant Likely benign rs144283894 GRCh38 Chromosome X, 154421400: 154421400
16 TAZ NM_000116.4(TAZ): c.-88G> C single nucleotide variant Likely benign rs113130344 GRCh37 Chromosome X, 153640093: 153640093
17 TAZ NM_000116.4(TAZ): c.-88G> C single nucleotide variant Likely benign rs113130344 GRCh38 Chromosome X, 154411756: 154411756
18 TAZ NM_000116.4(TAZ): c.*387C> T single nucleotide variant Uncertain significance rs1057515819 GRCh37 Chromosome X, 153649730: 153649730
19 TAZ NM_000116.4(TAZ): c.*387C> T single nucleotide variant Uncertain significance rs1057515819 GRCh38 Chromosome X, 154421391: 154421391
20 TAZ NM_000116.4(TAZ): c.*470C= single nucleotide variant Benign rs743547 GRCh37 Chromosome X, 153649813: 153649813
21 TAZ NM_000116.4(TAZ): c.*470C= single nucleotide variant Benign rs743547 GRCh38 Chromosome X, 154421474: 154421474

Expression for Endocardial Fibroelastosis

Search GEO for disease gene expression data for Endocardial Fibroelastosis.

Pathways for Endocardial Fibroelastosis

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 regulation of the force of heart contraction GO:0002026 9.26 CSRP3 MYH7
4 cardiac muscle tissue development GO:0048738 9.16 CSRP3 TAZ
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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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