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)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
15 (4.0%)	24969939	[Congenital atresia of left main coronary artery in 4 children: case report and literature review]. Xiao Y, Han L, Jin M, Ding W. Zhonghua Er Ke Za Zhi. 2014;52(5):383-6. [ Show abstract ] [ Hide abstract ]
		Cardiomyopathy


		Child Child, Preschool Congenital Heart Defects Coronary Vessel Anomalies Coronary Vessels Differential Diagnosis Echocardiography Electrocardiography Endocardial Fibroelastosis Females Homo sapiens Infant Male Mitral Valve Insufficiency X-Ray Computed Tomography
15 (4.0%)	24826287 (4008507)	Heart Transplantation in a 14-Year-Old Boy in the Presence of Severe Out-of-Proportion Pulmonary Hypertension due to Restrictive Left Heart Disease: A Case Report. Schwienbacher M, Schweigmann U, Neu N, Schermer E, Velik-Salchner C, Michel-Behnke I, Irnberger E, Steger CM, Stein JI, Geiger R. Case Rep Cardiol. 2013;2013:418565. [ Show abstract ] [ Hide abstract ]
		Hypertension



15 (4.0%)	24627438	Neonatal Ross-Konno operation and endocardial fibroelastosis resection after foetal percutaneous aortic valve balloon valvuloplasty: a complex approach to rescue the left heart. Perez-Negueruela C, Mayol J, Prada F, Caffarena-Calvar JM. Eur J Cardiothorac Surg. 2014;46(3):498-9. [ Show abstract ] [ Hide abstract ]
		Left ventricular outflow tract obstruction


		Balloon Valvuloplasty Endocardial Fibroelastosis Females Fetoscopy Homo sapiens Infant, Newborn Male Pregnancy
15 (4.0%)	24147243 (3799713)	Resolution of neonatal hypertrophic cardiomyopathy presumed secondary to acquired maternal ribonucleoprotein and smith autoantibodies. Shah A, Winrow A, Fulljames R, Naqvi N, Bansal RA, Bansal AS. AJP Rep. 2013;3(2):91-6. [ Show abstract ] [ Hide abstract ]
		Cardiomyopathy
		RNPC3 SSB


15 (4.0%)	23651694	Endocardial fibroelastosis in a quarterhorse mare. Cushing TL. J Comp Pathol. 2013;149(2-3):318-21. [ Show abstract ] [ Hide abstract ]
		Lethargy


		Animals Endocardial Fibroelastosis Equus caballus Females Horse Diseases
15 (4.0%)	23109776	Primary endocardial fibroelastosis presenting in a young child as incessant ventricular tachycardia and dilated cardiomyopathy. Arya SO, Karpawich PP, Gupta P, Buddhe S, Singh HR, Hussein Y, Gowda ST. Tex Heart Inst J. 2012;39(5):714-8. [ Show abstract ] [ Hide abstract ]
		Ventricular tachycardia


		Anti-Arrhythmia Agents Cardiomyopathy, Dilated Child, Preschool Echocardiography Electrocardiography Endocardial Fibroelastosis Extracorporeal Membrane Oxygenation Females Heart Transplantation Homo sapiens Tachycardia, Ventricular
15 (4.0%)	22922566	Unusual aortic valve anomaly in the fetus: a case report. Fesslova V, Boschetto C, Brankovic J, Bonacina E. Fetal Diagn Ther. 2012;32(3):221-4. [ Show abstract ] [ Hide abstract ]
		Aortic valve stenosis


		Adult Aortic Valve Insufficiency Echocardiography, Doppler, Color Endocardial Fibroelastosis Fatal Outcome Females Homo sapiens Infant, Newborn Low Cardiac Output Male Pregnancy Pregnancy Trimester, Second Term Birth Ultrasonography, Prenatal
15 (4.0%)	22495199	[A case of neonatal lupus syndrome and congenital atrioventricular block associated with maternal antibodies antiRo/SS-A]. De Leonibus C, Lembo C, Giliberti P, Rojo S, Foglia MC, Giordano L, Fratta A. Minerva Pediatr. 2012;64(2):251-6. [ Show abstract ] [ Hide abstract ]
		Atrioventricular block
		SSB TRIM21

		Adult Antibodies, Antinuclear Atrioventricular Block Biological Markers Endocardial Fibroelastosis Fatal Outcome Females Homo sapiens Hydrothorax Immunologic Factors Infant, Newborn Infant, Premature, Diseases Lupus Erythematosus, Systemic Maternal-Fetal Exchange Pregnancy Preterm Infant
15 (4.0%)	22140143	Discordant spectrum of cardiac manifestations of neonatal lupus in twins. Killen SA, Buyon JP, Friedman DM. Lupus. 2012;21(5):559-62. [ Show abstract ] [ Hide abstract ]
		Second degree atrioventricular block
		SSB

		Antibodies, Antinuclear Atrioventricular Block Echocardiography Females Follow-Up Studies Glucocorticoids Homo sapiens Infant Infant, Newborn Lupus Erythematosus, Systemic Male Pregnancy Pregnancy Complications Young Adult
15 (4.0%)	22089457	Persistent fetal sinus bradycardia associated with maternal anti-SSA/Ro and anti-SSB/La antibodies. Chockalingam P, Jaeggi ET, Rammeloo LA, Haak MC, Adama van Scheltema PN, Breur JM, Bartelings MM, Clur SA, Blom NA. J Rheumatol. 2011;38(12):2682-5. [ Show abstract ] [ Hide abstract ]
		Sinus bradycardia
		SSB

		Adult Antibodies, Antinuclear Autoantigens Bradycardia Child Child, Preschool Females Fetus Heart Block Homo sapiens Pregnancy Ribonucleoproteins Sick Sinus Syndrome

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