An infant with secondary endocardial fibroelastosis efe associated with glycogen storage disease ii pompe disease and multicystic dysplastic kidney mcdk 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. An illustrative case of endocardial fibroelastosis and recalcitrant. Endocardial fibroelastosis genetic and rare diseases. 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.
It can be primary idiopathic or secondary to structural heart diseases. Cardiac catheterization, done at age 2 years, reportedly showed both coronary arteries. Endocardial fibroelastosis refers to a pronounced, diffuse thickening of the ventricular endocardium and presents as unexplained heart failure in infants and children. This mutation is also responsible for barths syndrome and endocardial fibroelastosis. The disease is usually sporadic, but familial cases have been reported 10%.
Diagnostic tests for endocardial fibroelastosis including blood tests, urine tests, swabs, diagnostic tests, lab tests, and pathology testing. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Endocardial fibroelastosis symptoms, diagnosis, treatments. Background neonatal lupus erythematosus is associated with the transplacental passage of maternal antiro and antila antibodies, leading to complete atrioventricular block cavb.
Endocardial fibroelastosis an overview sciencedirect. Although it has received considerable attention in recent pediatric and pathologic literature, it has not been discussed in radiologic literature, despite the fact that radiologists will see these cases and may be in a position to suggest the diagnosis. Pdf on oct 1, 1986, odette farm a and others published fibroelastosis endocardica. Primary endocardial fibroelastosis presenting in a young. She presented at 3 months of age with wheezing and cough and was noted to have cardiomegaly on chest xray. Full text full text is available as a scanned copy of the original print version. Download fulltext pdf dilated and contracted forms of primary endocardial fibroelastosis. Fennell, endocardial fibroelastosis with marked cardiac enlargement and failure in a man who died in the age of 71 after 15 years of angina pectoris and two years of congestive heart failure. In animal studies, endocardial fibroelastosis and fibrosis have been produced in dogs by interfering with the lymphatic drainage of the heart, 46 and in monkeys by ablating the cardiac lymphatic system. Endocardial fibroelastosis associated with maternal anti. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. 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.
A mouse model of endocardial fibroelastosis author links open overlay panel elizabeth s. More detailed information about the symptoms, causes, and treatments of endocardial fibroelastosis is available below symptoms of endocardial fibroelastosis. 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. 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. Surgical resection of efe requires the establishment of the diagnosis and delineation of the extent of the fibrotic changes. More detailed information about the symptoms, causes, and treatments of endocardial fibroelastosis is available below. Download fulltext pdf congestive heart failure and endocardial fibroelastosis caused by chronic lymphocytic leukemia article pdf available in cancer 466. Wed like to understand how you use our websites in order to improve them. Endocardial fibroelastosis efe is a rare cardiac condition which is classically described in the pediatric population typically first two years.
Endocardial fibroelastosis definition of endocardial. Endocardial fibroelastosis efe is a pathologic condition characterized by expansion of the endocardium by collagen and elastin. 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. Onwuka a d tai yi a shuhei tara a rachel cianciolo b peter baker a e toshiharu shinoka a f christopher k. Get a printable copy pdf file of the complete article 1.
Endocardial fibroelastosis nord national organization for. 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. The study of endocardial fibroelastosis has been mentioned in research publications which can be found using our bioinformatics tool below. Endocardial fibroelastosis and left heart hypoplasia. Endocardial fibroelastosis associated with maternal antiro. The thickening caused by the abnormal deposition of collagen and elastin within the smooth muscle layer of the endocardium is. Endocardial fibroelastosis is rarely reported in adolescents and adults and is an important cause of nonimmune hydrops fetalis. The term endocardial fibroelastosis efe was introduced by weinberg and himmelfarb in 1943. Endocardial fibroelastosis of the heart the lancet. Here we report the prenatal diagnosis of critical aortic estenosis and endocardial fibroelastosis at. 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. Primary endocardial fibroelastosis of the left ventricle.
The search for the basic causes of fibroelastosis and left heart hypoplasia continues. Cardiac catheterization at that time confirmed a mean pulmonary artery pressure of 50 mmhg, with no evidence of pulmonary artery stenosis or shunt. 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. North bay, ontario, canada according to rossi,101 lancusi in 1740 was the first to describe endocardial fibroelastosis efe. Trasplante cardiaco en adolescente con valvulopatia aortica. Endocardial fibroelastosis radiology reference article. Endocardial fibroelastosis efe is a rare heart disorder that affects infants and children. Pdf dilated and contracted forms of primary endocardial.
Easily share your publications and get them in front of issuus. Aug 01, 2009 endocardial fibroelastosis presents during the first 36 months of life in 80% of cases. Mar 01, 2006 if you have problems viewing pdf files, download the latest version of adobe reader. It is the result of a nonstructural insult resulting in thick layers of collagen and elastic fibers in the endocardium. Declining incidence, with almost no new cases, may be due to declining incidence of mumps emedicine. Endocardial fibroelastosis efe is characterized by a diffuse white fibrous tissue lining the endocardium. Endocardial fibroelastosis efe is a rare heart disorder usually occurring in children two years old and younger. Primary endocardial fibroelastosis in two sisters jama. Endocardial fibroelastosis is characterized by proliferation of both elastic and collagenous fibers, causing localized or diffuse thickening of the endocardium 1. It is one of the causes for infants to present with unexplained heart failure. It should not be confused with endomyocardial fibrosis. A recently discovered, naturally occurring, familial, cardiac disorder of purebred burmese cats resembling primary endocardial fibroelastosis efe was compared to efe in man.
Gershon, in infectious diseases of the fetus and newborn seventh edition, 2011. Feb 21, 2014 endocardial fibroelastosis is characterized by diffuse endocardial thickening and myocardial dysfunction. If you have problems viewing pdf files, download the latest version of adobe reader. 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 and feline conditions. Links to pubmed are also available for selected references. Endocardial fibroelastosis usually presents in infancy, and the clinical features are typically indistinguishable from those seen in dilated cardiomyopathy. Prenatal diagnosis has been reported in a few cases, predominantley detected in the second and third trimester. Assessment of endocardial fibroelastosis by cardiac mri. 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. Endocardial fibroelastosis accessed 7 march 2018 case reports 6 week old boy with restrictive endocardial fibroelastosis j clin pathol 1992. A diagnosis of restrictive cardiomyopathy secondary to primary endocardial fibroelastosis was established after right ventricular endomyocardial biopsy.
The diagnosis is difficult to establish because clinical symptoms and electrocardiographic findings are nonspecific. Endocardial fibroelastosis endomyocardial fibroelastosis. We describe the case of a 4yearold girl who presented with sustained incessant ventricular tachycardia, a severely dilated left ventricle, and cardiac dysfunction refractory to all medical management and even to ablation. Secondary endocardial fibroelastosis associated with pompe. A mouse model of endocardial fibroelastosis sciencedirect. A rare heart disorder characterized by a thickening of the heart muscle lining causing heart enlargement and heart failure. Gata4 regulates fgf16 to promote heart repair after injury. Fibroelastosis cardiaca fetal by jeka bustamante issuu. 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.
Pdf congestive heart failure and endocardial fibroelastosis. Endocardial fibroelastosis an overview sciencedirect topics. Early fetal endocardial fibroelastosis and critical aortic stenosis. On gross examination, these changes appear as a pearly or opaque white inner lining of the heart, predominately in the ventricles.
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. Presentation pdf available may 2017 with 174 reads. She had had refractory heart and renal failure from the early neonatal period. In spite of administration of cathecholamines and diuretics, ventilator support, and peritoneal dialysis, her heart failure due to. But we suggest that just as the size of the foramen ovale can be used as a marker for intraatrial flow in utero 14, so the size of the ascending aorta can be used as an indicator of intrauterine flow through the aortic valve. In july, 2010, a 14yearold boy was admitted to hospital with cyanosis and progressive dyspnoea. Presentation this is a 33yearold african american lady who presented with exertional dyspnea. Objectives this study was designed to document the association of endocardial fibroelastosis efe and maternal autoantibodies. Endocardial fibroelastosis nord national organization. A single fetal disease with two stages of development article pdf available in heart 635. Feb 21, 2014 the term endocardial fibroelastosis efe was introduced by weinberg and himmelfarb in 1943. It may also be considered a reaction to stress, not necessarily a specific disease.
Distention of the immature left ventricle triggers. 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 etiologic and pathogenetic considerations in children m. Prognosis of endocardial fibroelastosis is variable and use to be severe. A postulated association between gestational mumps infection and endocardial fibroelastosis in the offspring was at one time the subject of much debate 512. Rare focal or diffuse fibroelastic thickening of mural left ventricular endocardium usually ages 0 2 years focal cases have no symptoms. Here we report the prenatal diagnosis of critical aortic estenosis and endocardial fibroelastosis at 26 th weeks of gestational age. Congestive heart failure and endocardial fibroelastosis. Disease bioinformatics research of endocardial fibroelastosis has been linked to cardiomyopathies, heart failure, congenital heart defects, heart diseases, myocarditis. 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. Prenatal diagnosis of critical aortic stenosis and endocardial fibroelastosis. At the age of 16 years, when we first saw her, she was.
Endocardial fibroelastosis is a cardiomyopathy not commonly seen in the present age. This term is now generally accepted as embracing various entities, including adult forms. In december, 2010, because of worsening congestive. Mr findings of endocardial fibroelastosis in children. Fibroblasts in an endocardial fibroelastosis disease model mainly. Endocardial fibroelastosis presents during the first 36 months of life in 80% of cases. Endocardial fibroelastosis is characterized by diffuse endocardial thickening and myocardial dysfunction. The endocardium of the left ventricle is thickened and fibrotic. This term is now generally accepted as embracing various. This paper deals with an entity which has been referred to as endocardial sclerosis, fetal endocarditis, and endocardial fibroelastosis. Endocardial fibroelastosis was first reported by kreysig, in 1816, under the misnomer of fetal endocarditis.
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