Recent pediatric and pathologic literature has reported a larger number of cases of fetal endocardial fibroelastosis than during any previous era. Cases of endocardial fibroelastosis associated with mitral or aortic valvular disease usually had a similar age of onset or a little earlier. Conclusion presence of symptoms or signs of cardiac ischemia, heart failure, mr, and endocardial fibroelastosis need to point us toward alcapa as a possibility, especially in pediatric, adolescent, or sometimes adult patients. Endocardial fibroelastosis mumps skin tests, and cross reactivity. A rare heart disorder characterized by a thickening of the heart muscle lining causing heart enlargement and heart failure. Fibroblasts in an endocardial fibroelastosis disease model. There are two forms, primary or idiopathic and secondary, which is related to structural heart disease 1, 2. 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. Primary endocardial fibroelastosis has been recognized as a distinct entity characterized by endocardial thickening involving either or both left and right sides of the heart. Relevance of efe was only recently highlighted through. Primary endocardial fibroelastosis of the left ventricle. The infants comprised 16 cases of rhesus haemolytic disease, of whom three had endocardial fibroelastosis, and 18 cases of nonrhesus hydrops, of whom seven had endocardial fibroelastosis. Endocardial fibroelastosis in infants with hydrops fetalis.
Flow disturbances and the development of endocardial fibroelastosis. 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. Endocardial fibroelastosis efe is a disorder of fetuses and infants of unclear cause that is characterized by deposition of. Download fulltext pdf download fulltext pdf endocardial fibroelastosis in a 57yearold transplant recipient article pdf available in korean circulation journal 404. Endocardial fibroelastosis american academy of pediatrics.
In july, 2010, a 14yearold boy was admitted to hospital with cyanosis and progressive dyspnoea. It should not be confused with endomyocardial fibrosis. Endocardial fibroelastosis efe is a rare heart disorder that affects infants and children. Pdf endocardial fibroelastosis is a cardiomyopathy not commonly seen in the present age. The classification and clinical approach to fetal cardiomyopathies based on this syndrome will also be discussed. Use of intravenous gamma globulin and corticosteroids in. Endocardial fibroelastosis is caused by aberrant endothelial to mesenchymal transition. Download as pdf print show related cases notify admin. It is unassociated with other cardiac anomalies and usually occurs in infancy. Endocardial fibroelastosis is characterized by diffuse endocardial thickening and myocardial dysfunction. A clinical and anatomic study of 47 patients with emphasis on its relationship to mitral insufficiency. Xlinked recessive inheritance seems likely in one family in which two probable female carriers had subarachnoid haemorrhages. 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.
Relationship of mumps to endocardial fibroelastosis. Endocardial fibroelastosis efe is a disorder of fetuses and infants of unclear cause that is characterized by deposition of collagen and elastin leading to ventricular hypertrophy and diffuse endocardial thickening. Three of the children died during infancy, and the disease was confirmed in one of them at autopsy. Endocardial fibroelastosis was seen in 16 and was not obvious in 4 others with reduced ventricular function, and 16 80% had reduced or borderline. Pdf primary endocardial fibroelastosis presenting in a young. Endocardial fibroelastosis jama pediatrics jama network. Endocardial fibroelastosis in the newborn is characterised by a. Congestive heart failure and endocardial fibroelastosis. The cause and natural history of endocardial fibroelastosis is uncertain and controversial. Endocardial sclerosis jama pediatrics jama network. Unlimited viewing of the articlechapter pdf and any associated supplements and figures. Believed to be a reaction of endocardium to abnormal jets of blood or to turbulence following congenital or acquired valvular disorders. Two related families with 15 children, seven of whom developed endocardial fibroelastosis efe are described. In the current issue of the journal, weixler and colleagues, 4 x 4 weixler, v.
An illustrative case of endocardial fibroelastosis and. Q wave depth of more than 3 mm, q wave width greater than 30 ms, and a qr pattern in at least one of leads i, avl, v5v7, is present in. Early fetal endocardial fibroelastosis and critical aortic stenosis. Endocardial fibroelastosis and infantile polycystic. It may also be considered a reaction to stress, not necessarily a specific disease. Recently, such terms as endocardial fibrosis, prenatal fibroelastosis, elastic tissue hyperplasia, endocardial sclerosis, and others have been used to describe what is apparently a single pathologic condition.
He had well established endocardial fibroelastosis, following postnatal surgical correction of coarctation of the aorta and balloon valvuloplasty for highgrade aortic valve stenosis. 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. The disease can be primary or secondary to various congenital heart diseases, most notably hypoplastic left heart syndrome, aortic stenosis, or atresia. Many of the clinical and laboratory findings in this group could be explained on the basis of mitral insufficiency, and one cannot necessarily assign the cardiac signs and symptoms to the endocardial. Endocardial fibroelastosis efe is characterised by the distinctive microscopic finding of proliferation of elastic fibers causing endocardial thickening 1.
Endocardial fibroelastosis of the heart the lancet. Endocardial fibroelastosis has been reported in adult. Endocardial fibroelastosis efe is characterised by the distinctive microscopic. Endocardial fibroelastosis and infantile polycystic disease endocardial fibroelastosis and infantile polycystic disease ebeling, peter. Twentysix cases of endocardial fibroelastosis were collected from three hospitals in manchester over a tenyear period. Endocardial fibroelastosis is diffuse, accentuated proliferation of ventricular endocardium causing a rare form of restrictive cardiomyopathy in both children and adults. Objectiveto examine the relation between a characteristic form of left ventricular dysfunction in the fetus and abnormalities of the aortic valve and endocardial fibroelastosis of the left ventricle. Case a healthy 22 year old primigravid woman had an uneventful pregnancy until the ultrasonographic examination at 22 weeks of gestation. Prenatal diagnosis of endocardial fibroelastosis, prenatal. The article by arya and colleagues 1 in the october 2012 issue of the texas heart institute journal is of particular interest, because we rarely see this condition in young persons and because the mechanism of its occurrence remains obscure endocardial fibroelastosis and endocardial fibrosis have occurred in various human clinical conditions. Atrial fibrillation and thrombus formation are common. Nineteen mothers were antiro antibody positive, 8 antila antibody positive, and 7 had clinical autoimmune disease. Endocardial fibroelastosis endomyocardial fibroelastosis. Unlimited viewing of the articlechapter pdf and any.
The presence of an aortic or mitral systolic murmur made it difficult to. The diagnosis of primary endocardial fibroelastosis circulation. A comparison has been made of the clinical features of a group of autopsy proved cases of endocardial fibroelastosis and a clinically diagnosed group with. Designa retrospective study to examine the correlation between echocardiographic findings in the fetus and postnatal or necropsy findings. Isolated fetal endocardial fibroelastosis diagnosed and. Abstract endocardial fibroelastosis is characterized by massive proliferation of collagenous and elastic tissue, in which the pathological process is restricted to the endocardium. Nine cases occurred in 4 families and these are discussed in detail. Dilated cardiomyopathy dcm is a myocardial disease characterized by ventricular chamber dilation associated with systolic myocardial dysfunction in the absence of other cardiac lesions. Prognosis of endocardial fibroelastosis is variable.
Focal subendocardial fibroelastosis when see in atria jet lesions look for abnormal valve. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Surgical management of adult endocardial fibroelastosis. Physical examination showed severe symptoms of heart failure. Through a transmitral approach, a calcified fibrotic left ventricular mass with near. Endocardial fibroelastosis genetic and rare diseases. Endocardial fibroelastosis, defined as an endocardium in. Dilated cardiomyopathy with endocardial fibroelastosis in. Inheritance of familial primary endocardial fibroelastosis. Endocardial fibroelastosis of the right ventricle and. Endocardial fibroelastosis is an inherited congenital heart disease in which severe fibrous thickening of the muscular tissues within the heart leads to heart failure.
Endocardial fibroelastosis in infants with hydrops fetalis journal of. A few reports have described severe efe without chb associated with antissaro. Pdf endocardial fibroelastosis is caused by aberrant endothelial. View the article pdf and any associated supplements and figures for a period of 48 hours. Endocardial fibroelastosis efe refers to the pathological condition that often causes sudden death in infants and children 1,2,3,4. Possible x linked inheritance article pdf available in journal of medical genetics 244. Study of 22 kittens and 20 human infants with efe with appropriate controls, revealed striking clinical, gross anatomic, histopathological and ultrastructural similarities between the human. 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. Those cases grouped as primary endocardial fibroelastosis had this as the only abnormality present, other than the endocardial fibroelastosis.
Despite an aggressive course of atorvastatin, lisinopril, furosemide, and betablockers for treatment of congestive cardiomyopathy, the patient became progressively symptomatic and ultimately required surgical resection of the endocardial thickening video 1. In a case of fetal heart failure caused by endocardial fibroelastosis, prenatal echocardiography clearly demonstrated. Since the cause and the exact nature of the disease are still obscure, it is difficult to select a title which is satisfactory. Endocardial fibroelastosis annals of internal medicine. More detailed information about the symptoms, causes, and treatments of endocardial fibroelastosis is available below symptoms of endocardial fibroelastosis. Endocardial fibroelastosis refers to a pronounced, diffuse thickening of the ventricular endocardium and presents as unexplained heart failure in infants and children. Congestive heart failure and endocardial fibroelastosis caused by chronic lymphocytic leukemia article pdf available in cancer 466. Efe is characterized by diffuse profound thickening of the.
Endocardial fibroelastosis efe is a rare heart disorder usually occurring in children two years old and younger. An illustrative case of endocardial fibroelastosis and recalcitrant. Those cases grouped as primary endocardial fibroelastosis had this as the only abnormality. Maternal antissaro or antissbla antibodies are associated with neonatal lupus erythematosus syndrome nles, especially congenital heart block chb, which may be associated with severe endocardial fibroelastosis efe and dilated cardiomyopathy dcm.
Dcm occasionally develops in conjunction with proliferation of fibroelastic fibers in the endocardium, producing endocardial fibroelastosis efe. If you have problems viewing pdf files, download the latest version of adobe reader. It is an incompletely understood cause of heart failure predominantly in subsaharan africa associated with high morbidity and mortality. Endocardial fibroelastosis an overview sciencedirect topics. Endocardial fibroelastosis symptoms, diagnosis, treatments. Prenatal diagnosis of endocardial fibroelastosis we therefore suggest that an abnormal endocardium may be detected in utero by ultrasound, thus representing an important clue in the differential diagnosis of fetal nonimmune hydrops and in the evaluation of pregnancies at risk for endocardial fibroelastosis. Results all 20 were initially referred at a median gestational age of 23 weeks range 18 to 38 weeks. A recently discovered, naturally occurring, familial, cardiac disorder of purebred burmese cats resembling primary endocardial fibroelastosis efe was compared to efe in man. The development of biventricular endocardial fibroelastosis occuring within both heart chambers or left heart failure, meanwhile, occurs prior to 6 months of age. Wed like to understand how you use our websites in order to improve them. For language access assistance, contact the ncats public information officer. Abstract endocardial fibroelastosis is characterized by a diffuse thickenning of the ventricular endocardium. Endocardial fibroelastosis usually presents in infancy, and the clinical features are typically indistinguishable from those seen in dilated cardiomyopathy.