Endomyocardial fibroelastosis

General Information (adopted from Orphanet):

Synonyms, Signs: EFE
Number of Symptoms 26
OrphanetNr: 2022
OMIM Id: 226000
ICD-10: I42.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 of 100 000
Inheritance: Autosomal recessive
X-linked
3585935, 127595 [IBIS]
Age of onset: Neonatal
23109776 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Dilated cardiomyopathy
 -Rare cardiac disease
Familial dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Familial restrictive cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Restrictive cardiomyopathy
 -Rare cardiac disease

Comment:

Endocardial fibroelastosis (EFE) is characterized by diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction. It can be primary (idiopathic) or secondary to structural heart diseases. In infancy or early childhood, this progressive process usually results in heart failure. There have been rare associations with conduction disturbances, atrial fibrillation, and ventricular ectopia. Sustained ventricular tachycardia (VT) has not been reported. (PMID:23109776). Endocardial fibroelastosis (EFE) is a thickening of the endocardium by collagen and elastic fibers.Primary EFE is characterized by a dilated left ventricle (LV) that typically has a high takeoff of the papillary muscles and thickening of the free edge of the mitral valve leaflets, in addition to diffuse thickening of the endocardium by aortic-like thick and parallel elastic fibers. In the past, EFE was considered a rare cardiomyopathy, but in the latest American Heart Association classification (2006) of cardiomyopathies, EFE is not mentioned. The existence of the entity of “primary” EFE has been questioned (PMID:23518027).

Symptom Information: Sort by abundance 

1
 (HPO:0030680) Abnormality of cardiovascular system morphology 18172637 IBIS 355 / 7739
2
 (HPO:0000028) Cryptorchidism 6105824 IBIS 347 / 7739
3
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 6105824 IBIS 296 / 7739
4
 (HPO:0000054) Micropenis Frequent [Orphanet] 6105824 IBIS 257 / 7739
5
 (HPO:0001999) Abnormal facial shape 6105824 IBIS 169 / 7739
6
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 6105824 IBIS 308 / 7739
7
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 6105824 IBIS 156 / 7739
8
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 6105824 IBIS 394 / 7739
9
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 6105824 IBIS 328 / 7739
10
 (HPO:0011039) Abnormality of the helix Very frequent [Orphanet] 6105824 IBIS 33 / 7739
11
 (HPO:0001250) Seizures Frequent [Orphanet] 6105824 IBIS 1245 / 7739
12
 (HPO:0000707) Abnormality of the nervous system 6105824 IBIS 61 / 7739
13
 (HPO:0001249) Intellectual disability 6105824 IBIS 1089 / 7739
14
 (HPO:0001852) Sandal gap Very frequent [Orphanet] 6105824 IBIS 63 / 7739
15
 (HPO:0002751) Kyphoscoliosis 6105824 IBIS 131 / 7739
16
 (HPO:0001635) Congestive heart failure 6105824 IBIS 232 / 7739
17
 (HPO:0004306) Abnormality of the endocardium Occasional [Orphanet] 6105824 IBIS 24 / 7739
18
 (HPO:0001638) Cardiomyopathy 6105824 IBIS 192 / 7739
19
 (HPO:0001644) Dilated cardiomyopathy 23109776 IBIS 141 / 7739
20
 (HPO:0001706) Endocardial fibroelastosis 6105824 IBIS 20 / 7739
21
 (HPO:0011025) Abnormality of cardiovascular system physiology Very frequent [Orphanet] 18172637 IBIS 41 / 7739
22
 (HPO:0001943) Hypoglycemia Very frequent [Orphanet] 6105824 IBIS 131 / 7739
23
 (HPO:0002045) Hypothermia 6105824 IBIS 27 / 7739
24
 (OMIM) Hypothalamic dysfunction 6105824 IBIS 4 / 7739
25
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 6105824 IBIS 949 / 7739
26
 (HPO:0040075) Hypopituitarism Frequent [Orphanet] 6105824 IBIS 32 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: