Endocardial Fibroelastosis

A condition characterized by the thickening of ENDOCARDIUM due to proliferation of fibrous and elastic tissue, usually in the left ventricle leading to impaired cardiac function (CARDIOMYOPATHY, RESTRICTIVE). It is most commonly seen in young children and rarely in adults. It is often associated with congenital heart anomalies (HEART DEFECTS CONGENITAL;) INFECTION; or gene mutation. Defects in the tafazzin protein, encoded by TAZ gene, result in a form of autosomal dominant familial endocardial fibroelastosis.

Also Known As:

Networked: 101 relevant articles (1 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Left Ventricular Dysfunction
2.	Pathologic Constriction (Stenosis)
3.	Heart Diseases (Heart Disease)
4.	Cardiomyopathies (Cardiomyopathy)
5.	Patent Foramen Ovale

Experts

1.	Hornberger, Lisa K: 3 articles (02/2011 - 07/2002)
2.	Smallhorn, Jeffrey F: 2 articles (08/2002 - 07/2002)
3.	Taylor, Glenn P: 2 articles (08/2002 - 07/2002)
4.	Shinoka, Toshiharu: 1 article (11/2015)
5.	Cianciolo, Rachel: 1 article (11/2015)
6.	Yi, Tai: 1 article (11/2015)
7.	Pepper, Victoria K: 1 article (11/2015)
8.	Clark, Elizabeth S: 1 article (11/2015)
9.	Baker, Peter: 1 article (11/2015)
10.	Best, Cameron A: 1 article (11/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Endocardial Fibroelastosis:

1.	tranilast (N 5')IBA 02/01/2013 - "Surgical procedures performed were: relief of systemic obstructive/regurgitant lesions ± endocardial fibroelastosis resection (n = 4, three pulmonary vascular resistance >6 Wood units), correction of right-sided regurgitant/stenotic lesions (n = 3), ventricular assist device for patients with a systemic right ventricle (n = 5) and re-fashioning of the Fontan pathway (n = 2). " 11/01/2006 - "In the balloon valvotomy group most infants had associated mitral stenosis (n = 7), small aortic annulus (n = 5), multiple anomalies (n = 2), endocardial fibroelastosis (n = 9), and depressed fractional shortening (n = 13). " 10/01/2006 - "In 50 reported cases, LVHT has been overlooked and misdiagnosed as dilated (n = 20), hypertrophic (n = 14) or restrictive cardiomyopathy (n = 2), endocardial fibroelastosis (n = 5), endomyocardial fibrosis (n = 1), myocarditis (n = 3), thrombus (n = 2), localised left ventricular hypertrophy (n = 1), left ventricular mass (n = 1) or myocardial/pericardial disease (n = 1). " 05/01/1986 - "In a 14-year study of calves with cardiac defects, 36 had 78 congenital cardiac defects: ectopia cordia cervicalis (n = 10 defects), common aortic trunk (n = 3 defects), dextraposed aorta (n = 8 defects), duplicated major trunks (n = 1 defect), hypoplastic aorta (n = 2 defects), interventricular septal defect (n = 11), interatrial septal defect (n = 2), left ventricular hypoplasia (n = 10), patent ductus arteriosus (n = 5), patent foramen ovale (n = 5), right ventricular hypoplasia (n = 10), cor triloculare biatriatum (n = 1), endocardial fibroelastosis with calcification (n = 3), and valvular hematomas (n = 7). " 04/01/1992 - "The cases were classified clinicopathologically as follows: dilated Cm (n = 17), hypertrophic Cm (n = 26), tumor (n = 5), endocardial fibroelastosis (n = 5), glycogen storage (n = 1), mucocutaneous lymph node syndrome (n = 1), and infarction (n = 1). "
2.	Right ventricle hypoplasiaIBA 07/01/1975 - "[Proceedings: Endocardial fibroelastosis associated with hypoplasia of the right ventricle--an autopsy case]." 04/01/2006 - "At autopsy, the following anomalies were found: Pierre-Robin sequence, hypoplasia of the right ventricle with muscular hypertrophy, and endocardial fibroelastosis, hypoplastic lungs, dysplastic left kidney, bilateral pelvicalyceal dilatation, central nervous system periventricular heterotopias and right sided club foot. " 05/01/1986 - "In a 14-year study of calves with cardiac defects, 36 had 78 congenital cardiac defects: ectopia cordia cervicalis (n = 10 defects), common aortic trunk (n = 3 defects), dextraposed aorta (n = 8 defects), duplicated major trunks (n = 1 defect), hypoplastic aorta (n = 2 defects), interventricular septal defect (n = 11), interatrial septal defect (n = 2), left ventricular hypoplasia (n = 10), patent ductus arteriosus (n = 5), patent foramen ovale (n = 5), right ventricular hypoplasia (n = 10), cor triloculare biatriatum (n = 1), endocardial fibroelastosis with calcification (n = 3), and valvular hematomas (n = 7). "
3.	carvedilol (Coreg)FDA LinkGeneric 09/01/2008 - "[Preliminary study on the effect of carvedilol on children with primary endocardial fibroelastosis]." 05/01/2015 - "A total of 36 patients with CHF, including 17 of endocardial fibroelastosis and 19 of dilated cardiomyopathy, were enrolled and were randomly divided into a carvedilol treatment group (group A) and a conventional treatment group (group B). "
4.	A-factor (Streptomyces)IBA 11/01/2006 - "Ninety-two percent of respondents rely on mitral valve z score, 84% on aortic valve z score, 52% on left ventricle length, 48% on the presence of antegrade ascending aorta flow, and only 32% considered significant endocardial fibroelastosis as a factor. " 08/26/1954 - "Endocardial fibroelastosis; a factor in heart disease of obscure etiology: a study of 20 autopsied cases in children and adults."
5.	Intravenous Immunoglobulins (IVIG)FDA Link 02/08/2011 - "This study sought to evaluate the outcome of maternal autoantibody-mediated fetal cardiomyopathy/endocardial fibroelastosis following intravenous gamma globulin (IVIG) and corticosteroid therapy. " 02/08/2011 - "Treatment of maternal autoantibody-mediated fetal cardiomyopathy/endocardial fibroelastosis with IVIG and corticosteroids potentially improves the outcome of affected fetuses. "
6.	gamma-Globulins (gamma-Globulin)IBA 02/08/2011 - "This study sought to evaluate the outcome of maternal autoantibody-mediated fetal cardiomyopathy/endocardial fibroelastosis following intravenous gamma globulin (IVIG) and corticosteroid therapy. "
7.	AutoantibodiesIBA 08/21/2002 - "This study was designed to document the association of endocardial fibroelastosis (EFE) and maternal autoantibodies. "
8.	AntibodiesIBA 04/01/2005 - "Complete fetal heart block (HB) and endocardial fibroelastosis (EFE) are known to be associated with maternal anti-Ro and anti-La antibodies. " 04/01/2005 - "Fetal Doppler echocardiographic diagnosis and successful steroid therapy of Luciani-Wenckebach phenomenon and endocardial fibroelastosis related to maternal anti-Ro and anti-La antibodies." 08/21/2002 - "Endocardial fibroelastosis associated with maternal anti-Ro and anti-La antibodies in the absence of atrioventricular block." 07/30/2002 - "Dilated CM was diagnosed in 22 cases, including 2 with congenital infections, 5 familial cases, 6 with endocardial fibroelastosis related to maternal anti-Ro/La antibodies, and 9 idiopathic cases. " 10/01/2013 - "Previously reported cases of neonatal cardiomyopathy with endocardial fibroelastosis have been ascribed to the transplacental transfer of maternal Sjogrens Syndrome (SS) A (Ro) and Sjogrens Syndrome (SS) B (La) antibodies and have been more severe and persistent compared with our patient. "
9.	Congenital heart blockIBA 12/01/2011 - "Three fetuses with SB and severe myocardial involvement (congenital complete heart block and/or endocardial fibroelastosis) succumbed in utero in spite of treatment. " 01/01/2011 - "There are few reports describing the features of maternal anti-SSA antibody-associated congenital complete heart block (CCHB) patients developing endocardial fibroelastosis (EFE). " 01/01/2004 - "There have been a few cases of endocardial fibroelastosis occurring in the absence of congenital heart block. " 01/01/1990 - "When severe, it is lethal, otherwise it can result in degeneration and endocardial fibroelastosis, disrupting conduction and leading to congenital heart block. " 06/01/1984 - "Endocardial fibroelastosis with congenital complete heart block in identical twins."
10.	CollagenIBA 09/01/2013 - "Endocardial fibroelastosis (EFE) is a thickening of the endocardium by collagen and elastic fibers. " 01/01/1986 - "Besides elastic and collagen fibres, numerous smooth muscle (SM) cells were found in the thickened endocardium in 3 cases of restrictive cardiomyopathy and in 1 case of congenital endocardial fibroelastosis. " 10/01/1985 - "Alterations at 21-104 days included extensive scarring with formation of dense mature collagen with scattered fibroblasts present, grossly evident left-ventricular aneurysm, and gross and microscopic changes similar to those observed in the secondary form of endocardial fibroelastosis. " 11/01/2015 - "Endocardial fibroelastosis (EFE) is a pathologic condition of abnormal deposition of collagen and elastin within the endocardium of the heart. " 01/01/2015 - "Endocardial fibroelastosis (EFE), characterized by a diffuse endocardial thickening through collagen and elastin fibers, develops in the human fetal heart restricting growth of the left ventricle (LV). "

Therapies and Procedures

1.	Balloon Angioplasty 05/01/1991 - "After delivery, a further balloon angioplasty was performed; this relieved the stenosis but the patient died five weeks later from persisting left ventricular dysfunction related to endocardial fibroelastosis. "
2.	Transplantation (Transplant Recipients) 04/01/2010 - "Endocardial fibroelastosis in a 57-year-old transplant recipient." 06/01/2006 - "Unusual case of an 18-year-old heart transplant recipient with endocardial fibroelastosis." 10/31/1997 - "The hearts from infants who died or underwent transplantation appeared, on gross examination, to be enlarged, with coarse, deep ventricular trabeculations and prominent endocardial fibroelastosis. " 02/01/2009 - "Endocardial fibroelastosis in dilated cardiomyopathy in a 28-year-old transplant recipient." 07/01/1992 - "Mean age at transplantation ranged from 49 years (ischemic heart disease) to 6 years (endocardial fibroelastosis). "
3.	Heart Transplantation (Grafting, Heart) 11/01/1992 - "A case is presented of constrictive endocardial fibroelastosis without other cardiac abnormality in a newborn infant who was treated successfully by orthotopic heart transplantation." 01/01/2001 - "Younger patients with respiratory symptoms, thromboembolism, increased cardiothoracic ratio on chest radiogram or patients with endocardial fibroelastosis appear to have a worse prognosis and orthotopic cardiac transplantation may be indicated." 04/01/1996 - "The patient with endocardial fibroelastosis died during an attempt to perform the Norwood operation (Stage I) and the other patient with ischemic dilated cardiomyopathy survived after cardiac transplantation. " 07/01/1991 - "Since March 1988, we have performed orthotopic heart transplantation in 11 infants and children with hypoplastic left heart syndrome (n = 6), cardiomyopathy (n = 4), or congenital endocardial fibroelastosis (n = 1). " 03/01/1991 - "Since march 1988 we have performed an orthotopic heart transplantation in 10 pediatric patients: 5 infants (2-16 years of age) with congestive cardiomyopathy, 1 newborn with endocardial fibroelastosis, 3 newborns with hypoplastic left heart syndrome, and finally 1 infant at the age of 2 years with AV-canal and hypoplastic left ventricle. "
4.	Balloon Dilation 09/01/2014 - "Neonatal Ross-Konno operation and endocardial fibroelastosis resection after foetal percutaneous aortic valve balloon valvuloplasty: a complex approach to rescue the left heart." 04/01/2006 - "[Balloon valvuloplasty of critical aortic stenosis performed from an umbilical access in a neonate with endocardial fibroelastosis -- a case report]." 09/01/2000 - "We report a case of a preterm infant with aortic stenosis and endocardial fibroelastosis, who underwent balloon valvuloplasty. " 01/01/1997 - "Critical aortic stenosis with severe concentric left ventricular hypertrophy and endocardial fibroelastosis has a substantial mortality rate when the conventional therapeutic strategy, ie, open surgical or balloon valvuloplasty, is applied. " 01/01/2013 - "A 14-year-old boy after balloon valvuloplasty of severe aortic valve stenosis in the neonatal period was referred for heart-lung transplantation because of high grade pulmonary hypertension and left heart dysfunction due to endocardial fibroelastosis with severe mitral insufficiency. "
5.	Norwood Procedures 01/01/2001 - "Significant independent factors associated with greater survival benefit for the Norwood procedure versus biventricular repair included younger age at entry, lower z-score of the aortic valve and left ventricular length, higher grade of endocardial fibroelastosis, absence of important tricuspid regurgitation, and larger ascending aorta. " 04/01/1996 - "The patient with endocardial fibroelastosis died during an attempt to perform the Norwood operation (Stage I) and the other patient with ischemic dilated cardiomyopathy survived after cardiac transplantation. " 04/01/1995 - "From April 1987 to September 1993, 60 infants underwent a Norwood operation for complex congenital heart disease including hypoplastic left heart syndrome (n = 41), ventricular septal defect and subaortic stenosis with aortic arch interruption/severe coarctation (n = 7), complex single right ventricle with subaortic stenosis (n = 8), critical aortic stenosis with endocardial fibroelastosis (n = 2), and malaligned primum atrial septal defect with coarctation (n = 2). "