Primary endocardial fibroelastosis in two sisters jama. Endocardial fibroelastosis an overview sciencedirect. Endocardial fibroelastosis efe is characterised by the distinctive microscopic. Endocardial fibroelastosis nord national organization. Hypointensity of the endocardium with apical filling defect apparent during steadystate free precession sequences a, followed by diffuse. Pathogenesis of endocardial fibroelastosis in burmese cats. Endocardial fibroelastosis etiologic and pathogenetic considerations in children m. No lesions were detected 24 hours after birth, but within a few days the endocardium became diffusely thickened by oedema. This condition, described in the latter half of the 19th century, is characterized by. Hearts were compared to agematched controls by gross examination and by light and transmission electron microscopy.
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. 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. It is most commonly seen in young children and rarely in adults. Presentation this is a 33yearold african american lady who presented with exertional dyspnea. 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. 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 fibro. Cardiac catheterization, done at age 2 years, reportedly showed both coronary arteries. Endocardial fibroelastosis or endomyocardial fibroelastosis is a condition characterized by widespread thickening of the mural endocardium due to proliferation of collagen and elastic fibers the border between the overgrown endocardium and the adjacent myocardium is usually clearly defined. Endocardial fibroelastosis efe is characterized by a diffuse white fibrous tissue lining the endocardium. Surgical resection of efe requires the establishment of the diagnosis and delineation of the extent of the fibrotic changes. 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. The study of endocardial fibroelastosis has been mentioned in research publications which can be found using our bioinformatics tool below. Disease bioinformatics research of endocardial fibroelastosis has been linked to cardiomyopathies, heart failure, congenital heart defects, heart diseases, myocarditis. 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.
The diagnosis is difficult to establish because clinical symptoms and electrocardiographic findings are nonspecific. Endocardial fibroelastosis article about endocardial. Endocardial fibroelastosis is secondary to hemodynamic. Endocardial fibroelastosis efe is characterized by an enlargement of the heart and a thickened layer of pearly whiteness covering the inner wall of the left. Background neonatal lupus erythematosus is associated with the transplacental passage of maternal antiro and antila antibodies, leading to complete atrioventricular block cavb. Read endocardial fibroelastosis, neurologic dysfunction and unusual facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephaly, american journal of medical genetics part a on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Purebred burmese kittens known to be affected with primary endocardial fibroelastosis were killed at intervals up to 60 days after birth. The classification and clinical approach to fetal cardiomyopathies based on this syndrome will also be discussed. Early fetal endocardial fibroelastosis and critical aortic stenosis. 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. Endocardial fibroelastosis, neurologic dysfunction and. The condition results from increasing amounts of fibrous and elastic tissue affecting the endocardium as well as the sub endocardium.
Fibroelastosis definition of fibroelastosis by medical. Endocardial fibroelastosis is rarely reported in adolescents and adults and is an important cause of nonimmune hydrops fetalis. Open access endocardial fibroelastosis in a 57yearold. Endocardial fibroelastosis genetic and rare diseases. Primary endocardial fibroelastosis efe is a congenital anomaly characterized by diffuse fibrous and elastic endocardial thickening in the absence of. Endocardial fibroelastosis radiology reference article. Endocardial fibroelastosis refers to a pronounced, diffuse thickening of the ventricular endocardium and presents as unexplained heart failure in infants and children. Case a healthy 22 year old primigravid woman had an uneventful pregnancy until the ultrasonographic examination at. Gershon, in infectious diseases of the fetus and newborn seventh edition, 2011. Distention of the immature left ventricle triggers. Efe has since been the subject of numerous treatises. Endocardium minimally contributes to coronary endothelium in the embryonic ventricular free walls. North bay, ontario, canada according to rossi,101 lancusi in 1740 was the first to describe endocardial fibroelastosis efe. The disease can be primary or secondary to various congenital heart diseases, most notably hypoplastic left heart syndrome, aortic stenosis, or atresia.
She presented at 3 months of age with wheezing and cough and was noted to have cardiomegaly on chest xray. Fibroelastosis cardiaca fetal by jeka bustamante issuu. Endocardial fibroelastoses endomyocardial fibroelastosis fibroelastoses, endocardial. It is the result of a nonstructural insult resulting in thick layers of collagen and elastic fibers in the endocardium. The endocardium of the left ventricle is thickened and fibrotic. Pdf endocardial fibroelastosis is caused by aberrant endothelial.
Recent pediatric and pathologic literature has reported a larger number of cases of fetal endocardial fibroelastosis than during any previous era. Endocardial fibroelastosis, a selfdefining term introduced in 1943, 1 is characterized by an opaque, pearlywhite thickening that results from proliferation of collagen and elastic fibers figure 101. Fetal doppler echocardiographic diagnosis and successful steroid therapy of lucianiwenckebach phenomenon and endocardial fibroelastosis related to maternal antiro and antila antibodies. Endocardial fibroelastosis associated with maternal anti. This mutation is also responsible for barths syndrome and endocardial fibroelastosis. Endocardial fibroelastosis endomyocardial fibroelastosis. Endocardial fibroelastosis symptoms, diagnosis, treatments. Pdf primary endocardial fibroelastosis presenting in a young. 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.
Physical examination showed severe symptoms of heart failure. He had well established endocardial fibroelastosis, following postnatal surgical correction of coarctation of the aorta and balloon valvuloplasty for highgrade aortic valve stenosis. Endocardial fibroelastosis is characterized by an abnormal thickening of the. A postulated association between gestational mumps infection and endocardial fibroelastosis in the offspring was at one time the subject of much debate 512. Easily share your publications and get them in front of issuus. Fetal endocardial fibroelastosis, journal of clinical. A rare heart disorder characterized by a thickening of the heart muscle lining causing heart enlargement and heart failure. The term endocardial fibroelastosis efe was introduced by weinberg and himmelfarb in 1943. Endocardial fibroelastosis jama pediatrics jama network. Isolated fetal endocardial fibroelastosis diagnosed and. Diagnostic tests for endocardial fibroelastosis including blood tests, urine tests, swabs, diagnostic tests, lab tests, and pathology testing. Rare focal or diffuse fibroelastic thickening of mural left ventricular endocardium usually ages 0 2 years focal cases have no symptoms. Issuu is a digital publishing platform that makes it simple to publish magazines, catalogs, newspapers, books, and more online. Blount, endocardial fibrosis simulating constrictive pericarditis.
Endocardial fibroelastosis presents during the first 36 months of life in 80% of cases. 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. 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. A clinical and anatomic study of 47 patients with emphasis on its relationship to mitral insufficiency. It is one of the causes for infants to present with unexplained heart failure. In july, 2010, a 14yearold boy was admitted to hospital with cyanosis and progressive dyspnoea. Echocardiographic findings and function analysis in infants with. Endocardial fibroelastosis is characterized by proliferation of both elastic and collagenous fibers, causing localized or diffuse thickening of the endocardium 1. Objectives this study was designed to document the association of endocardial fibroelastosis efe and maternal autoantibodies. Endocardial fibroelastosis efe is a rare cardiac condition which is classically described in the pediatric population typically first two years. 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. More detailed information about the symptoms, causes, and treatments of endocardial fibroelastosis is available below symptoms of endocardial fibroelastosis. Download as pdf print show related cases notify admin. If you have problems viewing pdf files, download the latest version of adobe.
Mr findings of endocardial fibroelastosis in children. Endocardial fibroelastosis definition of endocardial. Steadystate free precession ssfp cine imaging revealed a severe dilated left. Surgical management of adult endocardial fibroelastosis ncbi. This congenital cardiac malformation is frequently associated. Congestive heart failure and endocardial fibroelastosis caused by chronic lymphocytic leukemia article pdf available in cancer 466. Fibroblasts in an endocardial fibroelastosis disease model mainly.
Endocardial fibroelastosis and hypoplasia of the left ventricle in neonates without significant aortic stenosis. Pdf on oct 1, 1986, odette farm a and others published fibroelastosis endocardica. This term is now generally accepted as embracing various. Endocardial fibroelastosis efe is a rare heart disorder that affects infants and children.
Recent advances in fetal imaging indicate that efe development is directly associated with a distended, poorly contractile lv in evolving hypoplastic left heart syndrome hlhs. Endocardial fibroelastosis and hypoplasia of the left ventricle in. The disease is usually sporadic, but familial cases have been reported 10%. Congestive heart failure and endocardial fibroelastosis. Pdf endocardial fibroelastosis is a cardiomyopathy not commonly seen in the present age. Endocardial fibroelastosis of the heart the lancet. Endocardial fibroelastosis medical dictionary online. Endocardial fibroelastosis is recognised cli nically by two distinct patterns. When i was 7 weeks old back in december 1979, i was rushed into the leeds general infirmary having heart failure. Endocardial fibroelastosis was first reported by kreysig, in 1816, under the misnomer of fetal endocarditis. Endocardial fibroelastosis efe is a diffuse thickening of the ventricular.49 515 312 557 1601 36 1223 49 558 213 1127 1467 86 728 1309 61 855 337 1609 365 723 928 425 916 556 1540 961 555 265 344 987 16 733 338 1494 408 226