Aium practice guideline for the performance of fetal echocardiography. Threeyear followup by cardiac magnetic resonance imaging. He had well established endocardial fibroelastosis, following postnatal surgical correction of coarctation of the aorta and balloon valvuloplasty for highgrade aortic valve stenosis. Thank you for your interest in spreading the word about the bmj. Endocardial fibroelastosis is caused by aberrant endothelial to. These cases have been classified according to the associated cardiac anomaly and the anatomic condition of the left ventricle. A clinical and pathologic study of 47 cases with endocardial fibroelastosis is presented. From the department of pediatrics of the university of toronto, the research institute of the hospital for sick children, toronto, canada, and the department of pediatrics, university of rochester, rochester, new york. Noviral or chromosomal studies were done and there were no other congenital abnormalities. Concurrent pathologies of abpee and left endocardial fibroelastosis were described in an adult holstein friesian cow. Primary endocardial fibroelastosis in two sisters jama. The key pathogenic mechanisms of hes and emf are sustained eosinophilia while efe is cardiac anomalies, infections or genetics causing fibroelastic thickening of the endocardium and systolic dysfunction.
Nebulette mutations are associated with dilated cardiomyopathy. In these special cases it is often difficult to decide whether the mitral lesion is primary or secondary. Endocardial fibroelastosis is an uncommon disease that presents as unexplained heart failure in infants and children. 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. There was collapse and consolidation ofthe right upper lobe andcongestion ofthe lungs, liver, andspleen. Relevance of efe was only recently highlighted through establishment of staged. Endocardial fibroelastosis genetic and rare diseases. Concurrent occurrence of acute bovine pulmonary edema and. Clinical communications endocardial fibroelastosis w. Endocardial fibroelastosis efe is a rare cardiac condition which is classically described in the pediatric population typically first two years. Endomyocardial fibrosis nord national organization for.
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. Mumps is an acute viral illness caused by an rna virus in the paramyxoviridae family. Three of the 8 cases of endocardial fibroelastosis did not show any other associated cardiac anomaly. London, england t he term endocardial fbroelastosis was introduced by weinberg and himelfarbl in 1943, to describe a cardiac condition of obscure etiology in infancy, in which the most striking feature was diffuse left ventricular endocardial thickening. Lv dilates, shortening decreases and endocardial fibroelastosis develops. 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. Cardiac magnetic resonance imaging with 3chamber view. 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%. Endocardial fibroelastosis an overview sciencedirect topics. Surgical management of adult endocardial fibroelastosis ncbi. It may also be considered a reaction to stress, not necessarily a specific disease.
In the rat, both of these conditions, as well as endocar dial tumors 23 and an endocardial dis6gse have been reported 12. It is one of the causes for infants to present with unexplained heart failure. Mar 01, 2006 the monarch initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Thus, we refined our hypothesis, combining immaturity and stagnation of flow within. Endocardial fibroelastosis is an inherited congenital heart disease in which severe fibrous thickening of the muscular tissues within the heart leads to heart failure.
Coronary angiogram confirmed a left coronary system arising from her pulmonary artery. Endocardial fibroelastosis nord national organization for. Prodromal symptoms are nonspecific and may include myalgia, anorexia, malaise, headache and lowgrade fever. Endocardial fibroelastosis was first reported by kreysig, in 1816, under the misnomer of fetal endocarditis. Endocardiac definition of endocardiac by medical dictionary. Histologic demonstration of extensive endocardial fibroelastosis with. Case a healthy 22 year old primigravid woman had an uneventful pregnancy until the ultrasonographic examination at 22 weeks of gestation. Nebulette green, left panels, actin red, middle panels, and merge. 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. A retrospective study was made of 52 patients 16 men, 36 women with endocardial fibroelastosis diagnosed by strict clinical criteria and confirmed histologically in 18 35%. Endocardial fibroelastosis annals of internal medicine. Endocardial fibroelastosis 8, 36 is being recognized with increasing frequency and has now been described as a cause of cardiac failure and death in patients of all age groups 1, 3, 36. Endocardial fibroelastosis efe, characterized by a diffuse endocardial. California department of public health october 2018 mumps.
Endocardial fibroelastosis efe is characterised by the distinctive microscopic finding of proliferation of elastic fibers causing endocardial thickening 1. Endocardial cell plasticity in cardiac development, diseases. Chao departments of medicine and pathology, general hospital, singapore the term endocardial fibroelastosis was first introduced by weinberg and himelfarbl in 1943. Endocardial fibroelastosis radiology reference article. Necropsy showed endocardial fibroelastosis of the left ventricle but no other cardiac abnormality. Four variants k60n, q128r, g202r, and a592e in the nebulette gene were identified in patients with dilated cardiomyopathy dcm and endocardial fibroelastosis. Endocardial fibroelastosis, a specific form of myocardial fibrosis, consists of collagen and elastin hyperplasia and diffuse endocardial thickening. Endomyocardial fibroelastosis diseases of the chest.
The description below focuses on a specific mechanism. Physical examination showed severe symptoms of heart failure. Nine cases occurred in 4 families and these are discussed in detail. The classification and clinical approach to fetal cardiomyopathies based on this syndrome will also be discussed. Endocardial fibroelastosis article about endocardial. Endocardial fibroelastosis jama pediatrics jama network.
Monarchs tools are designed to make it easier to compare the signs and symptoms phenotypes of different diseases and discover common features. Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. Endocardial fibroelastosis nord national organization. Pdf heart transplantation in a neonate with endocardial. General discussion endomyocardial fibrosis emf is a progressive disease of unknown origin idiopathic that may seriously affect the heart. The condition results from increasing amounts of fibrous and elastic tissue affecting the endocardium as well as the sub endocardium. Six cases of endobar dial thickening in the spraguedawley ratare described in. Aided by a grant from the research fund of the womens auxiliary, new britain general hospital. 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. A case of primary endocardial fibroelastosis is presented. Objectives this study was designed to document the association of endocardial fibroelastosis efe and maternal autoantibodies. Distention of the immature left ventricle triggers development of. Endocardial fibroelastosis socalled fetal endocarditis. Fibrotic cardiac muscle is stiffer and less compliant and is seen in the progression to heart failure.
Efe is a rare cardiac disorder with poor prognosis and uncertain cause. Endocardial fibroelastosis is a reaction of the endocardium to hypoxia and often associated with heart disease, which results in dilated cardiac chambers. Endocardial fibroelastosis in two siblings with the infantile. An investigational orthotopic cardiac transplantation was performed to manage subendocardial fibroelastosis in a neonate. Feb 21, 2014 the term endocardial fibroelastosis efe was introduced by weinberg and himmelfarb in 1943. From the laboratories of the new britain connecticut general hospital and the department of pathology, yale university school of medicine. The disease can be primary or secondary to various congenital heart diseases, most notably hypoplastic left heart syndrome, aortic stenosis, or atresia.
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. Endocardial fibroelastosis is caused by aberrant endothelial. Relevance of efe was only recently highlighted through establishment of staged biventricular repair surgery in hlhs infant patients, where surgical removal of efe tissue has resulted in improvement. There are two forms, primary or idiopathic and secondary, which is related to structural heart disease 1, 2. Pdf fetal cardiac interventions are currently performed for critical aortic stenosis. Recent pediatric and pathologic literature has reported a larger number of cases of fetal endocardial fibroelastosis than during any previous era. Between 1961 and 1969, 15 children and 3 adults have undergone. Endocardial fibroelastosis is a rare heart disorder usually occurring in children two years old and younger. Endocardial fibroelastosis efe is a rare heart disorder that affects infants and children. The following studies on endocardial cell fate are predominantly from mouse models.
It should not be confused with endomyocardial fibrosis. 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. There was an overall mortality rate of 44 per cent and a longterm survival of 56 per cent. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases.
Joining the world sepsis day initiative is a welcome start. Early fetal endocardial fibroelastosis and critical aortic stenosis. A clinical and anatomic study of 47 patients with emphasis on its relationship to mitral insufficiency. Nebulette is a new susceptibility gene for endocardial fibroelastosis and. Endomyocardial fibroelastosis is primarily an anomaly of the subendocardium, with secondary vascular, and tertiary myocardial changes leading typically to compensatory myocardial hypertrophy and eventual dilatation. In a second family an apparently normal man produced two children with. Endocardial fibroelastosis refers to a pronounced, diffuse thickening of the ventricular endocardium and presents as unexplained heart failure in infants and children. Surgical management of adult endocardial fibroelastosis.
Endocardial fibroelastosis symptoms, diagnosis, treatments. Twentysix cases of endocardial fibroelastosis were collected from three hospitals in manchester over a tenyear period. 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. This term is now generally accepted as embracing various entities, including adult forms. Other descriptive terms which have been used to designate this condition are endocardial sclerosis 2, 6, 9, 11, endomyocardial fibroelastosis 10, 17, congenital fibroelastosis of the. Endocardial fibroelastosis associated with maternal antiro. The importance of clinical and autopsy studies for recognition of the condition is emphasised. The prognosis for primary endocardial fibroelastosis efe is relatively poor, although the condition is not universally fatal. We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. Diseases of the endocardium endocardial factoids 1. Dilated cardiomyopathy and endocardial fibroelastosis. In so doing, a better understanding is had of the role the cardiac anomaly associated with endocardial fibroelastosis plays.
Endocardial fibroelastosis an overview sciencedirect. Open access endocardial fibroelastosis in a 57yearold. Endocardial fibroelastosis of the heart the lancet. Different conclusions might be possible from studies. Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis. Endocardial fibroelastosis definition of endocardial. 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. The endocardium of the left ventricle is thickened and fibrotic. Relationship of mumps to endocardial fibroelastosis. In endocardial fibroelastosis there is cardiac enlargement due both to hypertrophy of the myocardium of the left ventricle and dilatation as a result of failure. Endocardial fibroelastosis is an important cause of congestive heart failure and death in infancy and early childhood. When i was 7 weeks old back in december 1979, i was rushed into the leeds general infirmary having heart failure.
I9753 heredity in primary endocardial fibroelastosis. Most authors consider that all efe is secondarya reactive process set off in the endocardium by stress on the myocardium. Xlinked recessive inheritance seems likely in one family in which two probable female carriers had subarachnoid haemorrhages. A rare heart disorder characterized by a thickening of the heart muscle lining causing heart enlargement and heart failure. Echocardiogram tte showed dense left ventricular endocardial calcification with low systolic function and severe functional mitral regurgitation. An animal model of endocardial fibroelastosis introducing morphopathological features of evolving fetal hypoplastic left heart syndrome the harvard community has made this article openly available. Triggers development of endocardial fibroelastosis. It is unclear whether this is a true congenital anomaly or a response to left atrial dilation. The various etiopathological theories are discussed. Further segmentation of the left ventricle was done by manual tracing with pen.
The diagnosis of primary endocardial fibroelastosis. Endocardial fibroelastosis is secondary to hemodynamic. Endocardial fibroelastosis efe is a rare heart disorder usually occurring in children two years old and younger. Declining incidence, with almost no new cases, may be due to declining incidence of mumps emedicine. Endocardial fibroelastosis efe is a diffuse thickening of the ventricular. A case of endocardial fibroelastosis has been presented. No unmanageable technical complications arose from the transplantation. Isolated fetal endocardial fibroelastosis diagnosed and. Among these 37 patients, 11 had an isolated coa, including four patients diagnosed with dilated cardiomyopathy, endocardial fibroelastosis and left ventricular noncompaction, before being referred to our hospital.
Endocardial fibroelastosis associated with maternal anti. They described a cardiac condition of unknown aetiology in infancy in which there. Distention of the immature left ventricle triggers. Purkinje fibers are distributed throughout the ventricular subendocardium 4. Hypointensity of the endocardium with apical filling defect apparent during steady. Primary endocardial disease not common noninflammatory cause not known examples endocardial fibroelastosis endocardiosis. Endocardial definition of endocardial by medical dictionary. Pdf nebulette mutations are associated with dilated. 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. Endocardial fibroelastosis is secondary to hemodynamic alterations in the chick embryonic model of hypoplastic left heart syndrome zivorad pesevski,1,2 alena kvasilova,1 tereza stopkova,1 ondrej nanka,1 eliska drobna krejci,1,2 christine buf. Pdf is024 fetal cardiac interventions researchgate. It is characterised by diffuse thickening of the endocardium resulting from proliferation of collagen and elastic fibres. Our small series suggests that there exists a subgroup of fetuses and infants in whom maternal autoantibodies may damage the developing myocardium, resulting in efe without concomitant cavb.
Nebulette is a new susceptibility gene for endocardial fibroelastosis and dcm. The importance of the clinical and autopsy studies for the recognition of the condition is. When present, it is commonly associated with non immune hydrops fetalis. Endocardial fibroelastosis accessed 7 march 2018 case reports. Endomyocardial fibrosis emf is a progressive disease of unknown origin idiopathic that may seriously affect the heart. 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. The various aetiopathological theories have been discussed. Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac. We sought to determine if these mutations are cardiomyopathy causing. Feb 21, 2014 endocardial fibroelastosis is characterized by diffuse endocardial thickening and myocardial dysfunction. In july, 2010, a 14yearold boy was admitted to hospital with cyanosis and progressive dyspnoea.
911 231 559 1043 1308 102 581 933 423 388 1564 1178 513 483 1329 1371 518 303 954 757 1226 1533 807 767 323 1166 1299 1262 1632 779 1609 470 107 1588 831 1483 1406 732 831 993 687 647 494