Endocardial fibroelastosis

Endomyocardial 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.



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Narrow down the case reports



Total: 108 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
15
(4.0%)
717242
Endocardial fibroelastosis: myocardial and vascular alterations associated with viral-like nuclear particles.
Factor SM.
Am Heart J. 1978;96(6):791-801.
Myocarditis
Cell Nucleus Coronary Vessels Endocardial Fibroelastosis Endothelium Homo sapiens Inclusion Bodies, Viral Infant Male Myocarditis Myocardium Organoids Virus Diseases
15
(4.0%)
676978
Idiopathic familial myocardiopathy in three generations: a clinical and pathologic study.
Ross RS, Bulkley BH, Hutchins GM, Harshey JS, Jones RA, Kraus H, Liebman J, Thorne CM, Weinberg SB, Weech AA, Weech AA Jr.
Am Heart J. 1978;96(2):170-8.
Sudden cardiac death
Adult Cardiac Arrhythmia Cardiomyopathies Endocardial Fibroelastosis Females Heart Ventricle Homo sapiens Male Middle Aged Mitral Valve Insufficiency Myocardium Sex Factors
15
(4.0%)
580881
Glomerular lesions in congenital endocardial fibroelastosis: clinical manifestations and ultrastructural studies in two patients.
Pardo V, Castro-Aballi R, Goorman HM, Strauss J.
Arch Pathol Lab Med. 1978;102(8):410-3.
Proteinuria
Child, Preschool Endocardial Fibroelastosis Females Homo sapiens Infant Kidney Diseases Kidney Glomerulus
15
(4.0%)
501933
Cross-sectional echocardiographic findings of left ventricular thrombi in a ten-year-old patient with cardiomyopathy.
Suzuki S, Yanagisawa M, Yano S, Itoh K, Kotohda K.
Jpn Heart J. 1979;20(5):675-9.
Congestive heart failure
Aortic Diseases Child Echocardiography Endocardial Fibroelastosis Heart Ventricle Homo sapiens Male Thromboembolism Thrombosis
15
(4.0%)
420528
Reye's syndrome associated with respiratory syncytial virus infection.
Griffin N, Keeling JW, Tomlinson AH.
Arch Dis Child. 1979;54(1):74-6.
Loss of consciousness
Homo sapiens Infant Male Respiratory Tract Infections Respirovirus Infections Reye Syndrome
15
(4.0%)
152418
Lactic acidosis associated with cerebellar vermal atrophy and cardiomyopathy.
Challa VR, Markesbery WR, Baumann RJ, Noonan JA.
Neuropadiatrie. 1978;9(3):277-84.
Congestive heart failure
Acidosis Cardiomegaly Cerebellum Child, Preschool Homo sapiens Infant Lactates Male Myocardium
15
(4.0%)
148030
Familial nonobstructive cardiomyopathy with endocardial fibroelastosis beyond infancy.
Singh A, Doyle EF, Danilowicz DA, Finegold MJ.
Pediatrics. 1978;61(3):410-6.
Cardiomyopathy
Cardiomegaly Child Electrocardiography Endocardial Fibroelastosis Females Heart Diseases Heart Ventricle Homo sapiens Male
15
(4.0%)
130089
[Myocardial fibroelastosis].
Triandaf I, Alexandru E, Dobrescu G.
Arch Mal Coeur Vaiss. 1975;68(3):321-8.
Cardiomyopathy
Adult Cardiomegaly Cardiomyopathies Heart Homo sapiens Male Myocardium
        

Phenotype(s) retrieved from Orphanet

    Total: 16

HPO ID Term Frequency
HP:0000174 Abnormal palate morphology Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0001635 Congestive heart failure Very frequent (99-80%)
HP:0001723 Restrictive cardiomyopathy Very frequent (99-80%)
HP:0001852 Sandal gap Very frequent (99-80%)
HP:0001943 Hypoglycemia Very frequent (99-80%)
HP:0002564 obsolete Malformation of the heart and great vessels Very frequent (99-80%)
HP:0011039 Abnormality of the helix Very frequent (99-80%)
HP:0100543 Cognitive impairment Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000830 Anterior hypopituitarism Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0008736 Hypoplasia of penis Frequent (79-30%)
HP:0001706 Endocardial fibroelastosis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 44

HPO ID Term # of case reports
HP:0001638 Cardiomyopathy 11
HP:0001650 Aortic valve stenosis 4
HP:0002617 Dilatation 4
HP:0000822 Hypertension 3
HP:0001635 Congestive heart failure 3
HP:0001718 Mitral stenosis 3
HP:0012722 Heart block 3
HP:0001678 Atrioventricular block 2
HP:0005110 Atrial fibrillation 2
HP:0005162 Left ventricular dysfunction 2
HP:0005180 Tricuspid regurgitation 2
HP:0012165 Oligodactyly 2
HP:0100570 Carcinoid tumor 2
HP:0000028 Cryptorchidism 1
HP:0000201 Pierre-Robin sequence 1
HP:0000238 Hydrocephalus 1
HP:0000256 Macrocephaly 1
HP:0000308 Microretrognathia 1
HP:0000343 Long philtrum 1
HP:0000518 Cataract 1
HP:0001629 Ventricular septal defect 1
HP:0001640 Cardiomegaly 1
HP:0001653 Mitral regurgitation 1
HP:0001658 Myocardial infarction 1
HP:0001659 Aortic regurgitation 1
HP:0001688 Sinus bradycardia 1
HP:0001712 Left ventricular hypertrophy 1
HP:0001907 Thromboembolism 1
HP:0001909 Leukemia 1
HP:0004756 Ventricular tachycardia 1
HP:0005143 Anomalous origin of right pulmonary artery from ascending aorta 1
HP:0005164 Dysplastic pulmonary valve 1
HP:0006671 Paroxysmal atrial tachycardia 1
HP:0006685 Endocardial fibrosis 1
HP:0006690 Myocardial calcification 1
HP:0009730 Rhabdomyoma 1
HP:0011623 Muscular ventricular septal defect 1
HP:0011675 Arrhythmia 1
HP:0011950 Bronchiolitis 1
HP:0032092 Left ventricular outflow tract obstruction 1
HP:0100242 Sarcoma 1
HP:0100545 Arterial stenosis 1
HP:0100584 Endocarditis 1
HP:0100699 Scarring 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID