Endocardial fibroelastosis was a catchall diagnosis. Believed to be a reaction of endocardium to abnormal jets of blood or to turbulence following congenital or acquired valvular disorders. Theterm endocardial fibroelastosis was first used by weinberg and himelfarbl to describe the condition of infantile cardiomegaly in which the pathologic lesion consisted of varying degrees of fibroelastotic proliferation within the endocardium. The classification and clinical approach to fetal cardiomyopathies based on this syndrome will also be discussed. When present, it is commonly associated with non immune hydrops fetalis. Endocardial fibroelastosis is characterized by diffuse endocardial thickening and myocardial dysfunction. Endocardial definition of endocardial by the free dictionary. Information and translations of endocardial fibroelastosis in the most comprehensive dictionary definitions resource on the web.
Congenital heart disease in children diagnosis endocardium. In july, 2010, a 14yearold boy was admitted to hospital with cyanosis and progressive dyspnoea. Its most obvious feature is a gross change in the makeup of the lining of the heart cavities the endocardium of one or both of the lower chambers of the heart the ventricles leading to the replacement of normal cells with fibrous tissue fibrosis. Changing concepts of endocardial fibroelastosis cardiology in the. A case of primary endocardial fibroelastosis is presented. Case report a case report of fetal aorticoleft ventricular. The contracted form of primary fibroelastosis in the fetus must have followed an insult that prevented any further increase in the size of the left ventricular cavity. Pa, reconstruction plasty, branch, peripheral at or beyond the first lobar branch, beyond the first segmental branch 3360. If you have problems viewing pdf files, download the latest version of adobe reader. A rare heart disorder characterized by a thickening of the heart muscle lining causing heart enlargement and heart failure. Until recently endocardial fibroelastosis has been considered a rare fatal disease occurring in infants and young children. The disease is usually sporadic, but familial cases have been reported 10%. It is suggested that the endocardial lesion is secondary to increased intraventricular pressure and dilatation caused by some other cardiac anomaly, and that the incorporation of surface deposits of fibrin play a part in the pathogenesis of this endocardial thickening.
Endocardial fibroelastosis article about endocardial. Jul 16, 2008 the development of biventricular endocardial fibroelastosis occuring within both heart chambers or left heart failure, meanwhile, occurs prior to 6 months of age. Prognosis in endocardial fibroelastosis jama pediatrics jama. Mutations of the genes coding for alphadystrobrevin 4, 26 and cypherzasp 27, proteins involved in linking the extracellular matrix of the myocardial cell to the cytoskeleton, have also been found in familial cases. The mortality rate may be as high as 30% in some patient populations. The death certificate lists the cause of death as congestive heart failure caused by probably endocardial fibroelastosis. Endocardial fibrosis definition of endocardial fibrosis. Endocardial fibroelastosis refers to a pronounced, diffuse thickening of the ventricular endocardium and presents as unexplained heart failure in infants and children. Endocardial fibroelastosis associated with maternal antiro. Peeling the left ventricle as treatment for endocardial fibroelastosis. Cardiac fibrosis commonly refers to the excess deposition of extracellular matrix in the cardiac muscle, but the term may also refer to an abnormal thickening of the heart valves due to inappropriate proliferation of cardiac fibroblasts. Mar 01, 2006 if you have problems viewing pdf files, download the latest version of adobe reader.
More detailed information about the symptoms, causes, and treatments of endocardial fibroelastosis is available below symptoms of endocardial fibroelastosis. Fibrotic cardiac muscle is stiffer and less compliant and is seen in the progression to heart failure. Endocardial fibroelastosis genetic and rare diseases. Threeyear followup by cardiac magnetic resonance imaging. Manhoff, pathologist to the hospital, after a brief perusal of the clinical data and on criteria to be elucidated later, expressed the opinion that the child had congenital endocardial fibroelastosis. Isolated fetal endocardial fibroelastosis diagnosed and. It is an uncommon cause of unexplained heart failure in infants and children. Introduction endocardial fibroelastosis efe is a rare cardiac disorder characterized by diffuse proliferation of elastin and collagen fibers within the. The content on the uptodate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. The diagnosis of primary endocardial fibroelastosis aha journals. Endocardial fibrosis definition of endocardial fibrosis by. Physical examination showed severe symptoms of heart failure.
Endocardial fibroelastosis nord national organization. Endocardial fibroelastosis was first reported by kreysig, in 1816, under the misnomer of fetal endocarditis. Declining incidence, with almost no new cases, may be due to declining incidence of mumps emedicine. Endocardial fibroelastosis is caused by aberrant endothelial. Case a healthy 22 year old primigravid woman had an uneventful pregnancy until the ultrasonographic examination at 22 weeks of gestation. Endocardial fibroelastosis radiology reference article. This mutation is also responsible for barths syndrome and endocardial fibroelastosis. General discussion endomyocardial fibrosis emf is a progressive disease of unknown origin idiopathic that may seriously affect the heart. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Endocardial fibroelastosis definition of endocardial. The study of endocardial fibroelastosis has been mentioned in research publications which can be found using our bioinformatics tool below.
We cant always see contact information in comments, so you can also contact amy at amy ancestor files thats all one word at gmail dot com. The various etiopathological theories are discussed. This appears to be thefirst described case ofendocardialfibroelastosis in association with alipidstorage disorder. The term endocardial fibroelastosis efe was introduced by weinberg and himmelfarb in 1943. In view of the short period of survival of these period of survival of these in endocardial fibroelastosis one the fibroelastosis, increased with endocardial fibroelastosis. Endocardial fibroelastosis presents during the first 36 months of life in 80% of cases. Disease bioinformatics research of primary endocardial fibroelastosis has been linked to endocardial fibroelastosis, heart failure, cardiomyopathies, congenital heart defects, myocarditis. Secondary endocardial fibroelastosis associated with pompe. It is one of the causes for infants to present with unexplained heart failure.
The development of biventricular endocardial fibroelastosis occuring within both heart chambers or left heart failure, meanwhile, occurs prior to 6 months of age. Get a printable copy pdf file of the complete article 1. An infant with secondary endocardial fibroelastosis efe associated with glycogen storage disease ii pompe disease and multicystic dysplastic kidney mcdk is described. Endocardial fibroelastosis is an inherited congenital heart disease in which severe fibrous thickening of the muscular tissues within the heart leads to heart failure.
Background neonatal lupus erythematosus is associated with the transplacental passage of maternal antiro and antila antibodies, leading to complete atrioventricular block cavb. Definition of endocardial fibroelastosis in the dictionary. Endocardial fibroelastosis annals of internal medicine. Aug 19, 2011 steroid therapy dexamethasone has been shown to cure fetal endocardial fibroelastosis efe and av conduction delays associated with maternal antiro and antila antibodies. Focal subendocardial fibroelastosis when see in atria jet lesions look for abnormal valve. She had had refractory heart and renal failure from the early neonatal period.
Endocardial fibroelastosis an overview sciencedirect topics. Aorticoleft ventricular tunnel, endocardial fibroelastosis, ultrasonography, fetus, case report introduction aorticoleft ventricular tunnel alvt is a rare congenital heart disease characterized by the existence of perivalvular vicetransport be tween the ascending aorta and left ventricle. Endocardial fibroelastosis usually presents in infancy, and the clinical features are typically indistinguishable from those seen in dilated cardiomyopathy. Endocardial fibroelastosis genetic and rare diseases information. It may also be considered a reaction to stress, not necessarily a specific disease. Endocardial fibroelastosis an overview sciencedirect. The condition results from increasing amounts of fibrous and elastic tissue affecting the endocardium as well as the sub endocardium. Case a healthy 22 year old primigravid woman had an uneventful pregnancy until the ultrasonographic examination at. Endocardial fibroelastosis is serious and lifethreatening. The endocardial thickening is believed to be caused by persistent and increased wall tension in the ventricles, possibly secondary to damaged myocardium, mitral regurgitation, or both. For language access assistance, contact the ncats public information officer. Endocardial fibroelastosis is a rare heart disorder that is characterized by a thickening within the muscular lining of the heart chambers the endocardium due to an increase in the amount of supporting connective tissue and elastic fibers. Full text full text is available as a scanned copy of the original print version. Endomyocardial fibrosis nord national organization for.
There was an overall mortality rate of 44 per cent and a longterm survival of 56 per cent. Links to pubmed are also available for selected references. Endocardial fibroelastosis associated with maternal anti. Endocardial fibroelastosis nord national organization for. Endocardial fibroelastosis symptoms, diagnosis, treatments. It should not be confused with endomyocardial fibrosis. The study of primary endocardial fibroelastosis has been mentioned in research publications which can be found using our. Primary endocardial fibroelastosis in two sisters jama. Get a printable copy pdf file of the complete article 3. Endocardial fibroelastosis is recognised cli nically by two distinct patterns. Endocardial fibroelastosis efe is a rare heart disorder that affects infants and children. In spite of administration of cathecholamines and diuretics, ventilator support, and peritoneal dialysis, her heart failure due to. Endocardial fibroelastosis was a catchall diagnosis, meaning the doctors did not know the cause of the enlarged heart and heart failure.
Objectives this study was designed to document the association of endocardial fibroelastosis efe and maternal autoantibodies. British heartjournal, 1977, 39, 9496 endocardial fibroelastosis and niemannpickdisease michaelwestwood from st. Pdf endocardial fibroelastosis is caused by aberrant endothelial. In the 16 cases with no associated cardiovascular anomaly enlargement of the chamber affected by endocardial fibroelastosis was seen in 58% of instances while enlargement without endocardial fibroelastosis was seen only once in one chamber 3%. More detailed information about the symptoms, causes, and treatments of endocardial fibroelastosis is available below. Endocardial fibroelastosis efe is a rare cardiac condition which is classically described in the pediatric population typically first two years. Maryshospital, manchester the concurrence of endocardialfibroelastosis and niemannpick disease is described. He had well established endocardial fibroelastosis, following postnatal surgical correction of coarctation of the aorta and balloon valvuloplasty for highgrade aortic valve stenosis. It is nowwell recognized that there are two forms of endocardial fibroelastosis. Rare focal or diffuse fibroelastic thickening of mural left ventricular endocardium usually ages 0 2 years focal cases have no symptoms. Dogs cats terrific pets is a website you can find information on dog breeds, dog breeders, dogs for sale, puppies for sale, dog names and more.
Endocardial fibroelastosis endomyocardial fibroelastosis. Endocardial fibroelastosis efe is a rare heart disorder usually occurring in children two years old and younger. Relevance of efe was only recently highlighted through establishment of staged. Endocardial fibroelastosis is an important cause of congestive heart failure and death in infancy and early childhood. It results from diffuse thickening of the endocardium leading to dilated. Pdf primary endocardial fibroelastosis presenting in a young. Early fetal endocardial fibroelastosis and critical aortic stenosis. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. Endocardial fibroelastosis and niemannpickdisease michaelwestwood from st.
Hypoplastic left heart syndrome hlhs is one of the most common severe congenital cardiac anomalies, characterized by marked hypoplasia of left sided structures of the heart which is commonly accompanied by a thick layer of fibroelastic tissue, termed endocardial fibroelastosis efe. Endocardial fibroelastosis is not a disease but a reaction of the endocardium. In the first group the endocardial fibroelastosis is accompanied by other congenital anomalies common amongst which are mitral incompetence, aortic stenosis and aortic atresia, coarctation of the aorta and patent ductus arteriosus. Endocardial fibroelastosis of the heart the lancet. Open access endocardial fibroelastosis in a 57yearold transplant recipient mirae lee, md1, sungji park, md1, miyeon kim, md1, sunyoun bae, md1, hojung chung, md1, ghee young kwon, md2, yeon hyeon choe, md3 and eunseok jeon, md1. Endocardial fibroelastosis a term that was coined in the early 1940s 1 is primarily a disease of infancy and early childhood, 2 with rare occurrences in young adulthood. The description below focuses on a specific mechanism. Rare disease database nord national organization for rare.
Disease bioinformatics research of endocardial fibroelastosis has been linked to cardiomyopathies, heart failure, congenital heart defects, heart diseases, myocarditis. Pdf endocardial fibroelastosis is a cardiomyopathy not commonly seen in the present age. In spite of administration of cathecholamines and diuretics, ventilator support, and peritoneal dialysis, her heart failure due to reduction of. Open access endocardial fibroelastosis in a 57yearold. Feb 21, 2014 endocardial fibroelastosis is characterized by diffuse endocardial thickening and myocardial dysfunction. The importance of clinical and autopsy studies for. It is characterized by a thickening within the muscular lining of the heart chambers due to an increase in the amount of supporting connective tissue inelastic collagen and elastic fibers. Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. When i was 7 weeks old back in december 1979, i was rushed into the leeds general infirmary having heart failure. Pa, reconstruction plasty, branch, peripheral at or beyond the first lobar branch 0550 wording was changed from v3. Living with endocardial fibroelastosis my name is catherine and i thought i would tell my story so that maybe it will give others a bit of hope.
Endocardial fibroelastosis accessed 7 march 2018 case reports 6 week old boy with restrictive endocardial fibroelastosis j clin pathol 1992. Endocardial fibroelastosis is rarely reported in adolescents and adults and is an important cause of nonimmune hydrops fetalis. A clinical and anatomic study of 47 patients with emphasis on its relationship to mitral insufficiency. This term is now generally accepted as embracing various.
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