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.

Input patient's signs and symptoms

Narrow down the case reports

Total: 108 (papers)

(per page)

Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
9 (17.5%)	9332651	Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. Bleyl SB, Mumford BR, Brown-Harrison MC, Pagotto LT, Carey JC, Pysher TJ, Ward K, Chin TK. Am J Med Genet. 1997;72(3):257-65. [ Show abstract ] [ Hide abstract ]
		Neutropenia Myopathy

		rs132630277
		Echocardiography Females Heart Ventricle Homo sapiens Infant Infant, Newborn Male Mitochondria, Heart Myocardium Ventricular Dysfunction, Left X Chromosome
9 (17.5%)	8487269	Possible X linked congenital mitochondrial cardiomyopathy in three families. Orstavik KH, Skjorten F, Hellebostad M, Haga P, Langslet A. J Med Genet. 1993;30(4):269-72. [ Show abstract ] [ Hide abstract ]
		Cardiomyopathy Myopathy


		Cardiomyopathy, Dilated Electron Microscopy Females Homo sapiens Infant Infant, Newborn Male Mitochondria, Heart Mitochondrial Myopathies X Chromosome
9 (17.5%)	8434619	Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. Ades LC, Gedeon AK, Wilson MJ, Latham M, Partington MW, Mulley JC, Nelson J, Lui K, Sillence DO. Am J Med Genet. 1993;45(3):327-34. [ Show abstract ] [ Hide abstract ]
		Neutropenia Myopathy


		Cardiomyopathies Child Child, Preschool Chromosome Mapping DNA Genetic Markers Homo sapiens Infant Infant, Newborn Male Myopathy Neutropenia Syndrome X Chromosome
9 (17.5%)	2630016	[Identification of congenital cardiac malformation and in utero arrhythmia by fetal echocardiography]. Zhu WL. Zhonghua Yi Xue Za Zhi. 1989;69(12):684-6, 48. [ Show abstract ] [ Hide abstract ]
		Bradycardia Rhabdomyoma


		Adult Cardiac Arrhythmia Congenital Heart Defects Echocardiography Echocardiography, Doppler Females Fetal Diseases Homo sapiens Pregnancy
15 (4.0%)	31182935	An illustrative case of endocardial fibroelastosis and recalcitrant intracardiac thrombosis: a case report. Ozdemir D, Cortopassi IO, McNamara RL. Thromb J. 2019;17:8. [ Show abstract ] [ Hide abstract ]
		Atrial fibrillation



15 (4.0%)	30694111	Dilated cardiomyopathy with endocardial fibroelastosis in a juvenile Pallas cat. Gudenschwager EK, Abbott JA, LeRoith T. J Vet Diagn Invest. 2019;31(2):289-293. [ Show abstract ] [ Hide abstract ]
		Pericardial effusion


		Animals Cardiomyopathy, Dilated Echocardiography Endocardial Fibroelastosis Females
15 (4.0%)	28614263 (5478348)	Misdiagnosed anomalous left coronary artery from the pulmonary artery as endocardial fibroelastosis in infancy: A case series. Ma F, Zhou K, Shi X, Wang X, Zhang Y, Li Y, Hua Y, Wang C. Medicine (Baltimore). 2017;96(24):e7199. [ Show abstract ] [ Hide abstract ]
		T-wave inversion


		Bland White Garland Syndrome Child, Preschool Diagnostic Errors Differential Diagnosis Endocardial Fibroelastosis Females Homo sapiens Infant Male
15 (4.0%)	28511027	Ross-Konno Procedure With Cylinder Mitral Valve Replacement in 49 Days Old Infant. Fedevych O, Yachnik O, Mykychak Y, Ivanov Y, Borodinova O, Yemets I. World J Pediatr Congenit Heart Surg. 2018;9(5):587-590. [ Show abstract ] [ Hide abstract ]
		Aortic valve stenosis


		Animals Aortic Valve Stenosis Balloon Valvuloplasty Echocardiography Equus caballus Females Heart Valve Prosthesis Homo sapiens Infant Mitral Valve Prosthesis Design Ventricular Outflow Obstruction
15 (4.0%)	25880286 (4377042)	Failing stentless Bioprostheses in patients with carcinoid heart valve disease. Schaefer A, Sill B, Schoenebeck J, Schneeberger Y, Reichenspurner H, Gulbins H. J Cardiothorac Surg. 2015;10:41. [ Show abstract ] [ Hide abstract ]
		Carcinoid tumor


		Adult Carcinoid Heart Disease Females Heart Valve Prosthesis Heart Valve Prosthesis Implantation Homo sapiens Male Middle Aged Pulmonary Valve Insufficiency Pulmonary Valve Stenosis Repeat Surgery
15 (4.0%)	25804825	Restrictive myocardium with an unusual pattern of apical hypertrophic cardiomyopathy. Sato T, Matsuyama TA, Seguchi O, Murata Y, Sunami H, Yanase M, Fujita T, Ishibashi-Ueda H, Nakatani T. Cardiovasc Pathol. 2015;24(4):254-7. [ Show abstract ] [ Hide abstract ]
		Myocardial fibrosis


		Autopsy Biopsy Cause of Death Echocardiography Fatal Outcome Females Fibrosis Homo sapiens Hypertrophic Cardiomyopathy Left Ventricular Function Magnetic Resonance Imaging Middle Aged Myocardium Right Ventricular Dysfunction Ventricular Dysfunction, Left Ventricular Function, Right

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