endocardial fibroelastosis

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EFE

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/06/06 04:45:23」(JST)

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Endocardial Fibroelastosis
Classification and external resources
Specialty	cardiology
ICD-10	I42.4
ICD-9-CM	425.3
OMIM	226000 305300
DiseasesDB	29236

Endocardial Fibroelastosis (EFE) is a rare heart disorder usually occurring in children two years old and younger. It may also be considered a reaction to stress, not necessarily a specific disease.

It should not be confused with endomyocardial fibrosis.

Characteristics

EFE is characterized by a thickening of the innermost lining of the heart chambers (the endocardium) due to an increase in the amount of supporting connective tissue and elastic fibers. It is an uncommon cause of unexplained heart failure in infants and children, and is one component of HEC syndrome. Fibroelastosis is strongly seen as a primary cause of restrictive cardiomyopathy in children, along with cardiac amyloidosis, which is more commonly seen in progressive multiple myeloma patients and the elderly.

Cause and Genetics

A recent review cites references to 31 different diseases and other stresses associated with the EFE reaction. These include infections, cardiomyopathies, immunologic diseases, congenital malformations, even electrocution by lightning strike. EFE has two distinct genetic forms, each having a different mode of inheritance. An x-linked recessive form, and an autosomal recessive form have both been observed.

History

An infant with dilated, failing heart was no rarity on the pediatric wards of hospitals in the mid-twentieth century. When such patients came to the autopsy table, most of the hearts showed the thickened endocardial layer noted above. This was thought to be a disease affecting both the heart muscle and the endocardium and it was given various names such as: idiopathic hypertrophy of the heart, endocardial sclerosis, cardiac enlargement of unknown cause, etc. Some of these hearts also had overt congenital anomalies, especially aortic stenosis and coarctation of the aorta.

The term "endocardial fibroelastosis" was introduced by Weinberg and Himmelfarb in 1943. In their pathology laboratory they noted that usually the endocardium was pearly white or opaque instead of normally thin and transparent and microscopically showed a systematic layering of collagenous and elastic fibers. they felt their new term was more adequately descriptive, and, indeed it was quickly and widely adopted. Clinicians began applying it to any infant with a dilated, failing heart, in spite of the fact that the only way to definitively establish the presence of EFE was to see it at autopsy. EFE had quickly become the name of a disease, and it continues to be used by many physicians in this way, though many patients with identical symptoms do not have the endocardial reaction of EFE.

In the latter decades of the twentieth century new discoveries and new thinking about heart muscle disease gave rise to the term "cardiomyopathy". Many of the cases of infantile cardiac failure were accordingly called "primary cardiomyopathy" as well as "primary EFE", while those with identifiable congenital anomalies stressing the heart were called "secondary EFE". In 1957 Black-Schaffer proposed a unitary explanation that stress on the ventricle, of any kind, may trigger the endocardial reaction, so that all EFE could be thought of as secondary. This prescient paper convinced few readers at the time.

Evidence gradually accumulated as to the role of infection as one such type of stress. The studies of Fruhling and colleagues in 1962 were critical. They followed a series of epidemics of Coxsackie virus infection in their part of France. After each epidemic there were increased numbers of cases with EFE coming to autopsy. On closer study there were cases of pure acute myocarditis, cases of mixed myocarditis and EFE, and cases where myocarditis had healed, leaving just EFE. They were able to culture Coxsackie virus from the tissues of many of the cases at all stages of this apparent progression. A similar progression from myocarditis to EFE was later observed at Johns Hopkins but no virology was done.

Noren and colleagues at University of Minnesota, acting on an idea floated at a pediatric meeting, were able to show a relation between exposure to maternal mumps in fetal life, EFE, and a positive skin test for mumps in infants. This brought on a large ongoing controversy and finally prompted a virologist colleague of theirs to inject embryonated eggs with mumps virus. The chicks at first showed the changes of myocarditis, about a year later, typical EFE, and transitional changes in between. Despite this, the controversy about the role of mumps continued as the actual incidence of EFE plummeted. The proponents of mumps etiology pointed to this as the effect of the recent implementation of widespread mumps immunization.

Evidence that viral infection may play a role as a cause or trigger of EFE was greatly reinforced by the study directed by Towbin in the virus laboratory of Texas Children's Hospital. They applied the methods of today's genetics to old preserved specimens from autopsies of patients with EFE done well before mumps immunization began and found mumps genome in the tissues of over 80% of these patients. It seems undeniable that transplacental mumps infection had been in the past the major cause of EFE, and that immunization was indeed the cause of EFE having become rare.

Non-infectious causes of EFE have also been studied, spurred by the opening of new avenues of genetics research. Now there are specific named genes associated with certain cardiomyopathies, some of which show the characteristic reaction of EFE. A typical example is Barth syndrome and the responsible gene, tafazzin.

Developments in echocardiography, both the technology of the machines and the skill of the operators, have made it no longer necessary to see the endocardium at autopsy. EFE can now be found non-invasively by the recording of increased endocardial echos. Fetal echocardiography has shown that EFE can begin to accumulate as early as 14 weeks of gestation, and increase with incredible rapidity and even that it can be reversed if the stress can be removed early in fetal life.

The North American Pediatric Cardiomyopathy Registry was founded in 2000 and has been supported since by the National Heart, Lung and Blood Institute. Because of the logic of the diagnostic tree, where EFE applies to many branches of the tree and thus cannot occupy a branch, it is not listed by the Registry as a cause but rather, "with EFE" is a modifier that can be applied to any cause.

Thus, the past half century has seen EFE evolve from a mysterious but frequently observed disease to a rare but much better understood reaction to many diseases and other stresses.

Treatment

The cause should be identified and, where possible, the treatment should be directed to that cause. A last resort form of treatment is heart transplant.

See also

• Papillary fibroelastoma

References

UpToDate Contents

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• 1. 心筋症の定義および分類 definition and classification of the cardiomyopathies
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• 3. ムコ多糖症：臨床的特徴および診断 mucopolysaccharidoses clinical features and diagnosis
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• 5. 小児における大動脈弁狭窄 valvar aortic stenosis in children

English Journal

• A mouse model of endocardial fibroelastosis.

• Clark ES1, Pepper VK2, Best CA3, Onwuka EA4, Yi T3, Tara S3, Cianciolo R5, Baker P6, Shinoka T7, Breuer CK8.
• Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.Cardiovasc Pathol.2015 Aug 8. pii: S1054-8807(15)00089-7. doi: 10.1016/j.carpath.2015.08.002. [Epub ahead of print]
• BACKGROUND: Endocardial fibroelastosis (EFE) is a pathologic condition of abnormal deposition of collagen and elastin within the endocardium of the heart. It is seen in conjunction with a variety of diseases including hypoplastic left heart syndrome and viral endocarditis. While an experimental mode
• PMID 26363814

• Biventricular Badness: Rare Images of Ebstein Anomaly of the Tricuspid Valve in a Patient with Hypoplastic Left Heart Syndrome.

• Werho DK1, Thorsson T, Owens ST, Fifer C.
• Pediatric cardiology.Pediatr Cardiol.2015 Aug;36(6):1310-1. doi: 10.1007/s00246-015-1171-z. Epub 2015 Apr 9.
• We report a rare case of hypoplastic left heart syndrome coexisting in a patient with Ebstein anomaly of the tricuspid valve, which has previously been described only in pathological studies. A fetal echocardiogram at 27-weeks gestation showed severe aortic stenosis with evolving hypoplastic left he
• PMID 25854848

• Nebulette knockout mice have normal cardiac function, but show Z-line widening and up-regulation of cardiac stress markers.

• Mastrototaro G1, Liang X2, Li X2, Carullo P3, Piroddi N4, Tesi C4, Gu Y2, Dalton ND2, Peterson KL2, Poggesi C4, Sheikh F2, Chen J5, Bang ML6.
• Cardiovascular research.Cardiovasc Res.2015 Jul 15;107(2):216-25. doi: 10.1093/cvr/cvv156. Epub 2015 May 17.
• AIMS: Nebulette is a 109 kDa modular protein localized in the sarcomeric Z-line of the heart. In vitro studies have suggested a role of nebulette in stabilizing the thin filament, and missense mutations in the nebulette gene were recently shown to be causative for dilated cardiomyopathy and endocard
• PMID 25987543

Japanese Journal

• Fetal Echocardiographic Assessment of Endocardial Fibroelastosis in Maternal Anti-SSA Antibody-Associated Complete Heart Block

• Circulation journal : official journal of the Japanese Circulation Society 75(5), 1215-1221, 2011-04-25
• NAID 10028147819

• 胎児期に心不全を発症した右室が主病変の原発性心内膜線維弾性症の一例

• 日本周産期・新生児医学会雑誌 = Journal of Japan Society of Perinatal and Neonatal Medicine 46(3), 832-837, 2010-08-30
• NAID 10026707584

• 臨床研究・症例報告 臓器よりエンテロウイルスがPCR法で検出された心内膜線維弾性症の1例

• 小児科臨床 62(8), 1869-1874, 2009-08
• NAID 40016638696

Related Links

• Endocardial Fibroelastosis - Medscape Reference

19 Jun 2012 ... Endocardial Fibroelastosis. The term endocardial fibroelastosis (EFE) was introduced by Weinberg and Himmelfarb in 1943.

• Endocardial fibroelastosis - Wikipedia, the free encyclopedia

Endocardial Fibroelastosis (EFE) is a rare heart disorder usually associated with children two years old and younger. It may also be considered a reaction to stress, not necessarily a specific disease. It should not be confused with ...

Related Pictures

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★リンクテーブル★

リンク元	「EFE」「心内膜線維弾性症」
関連記事	「endocardial」

「EFE」

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同

endocardial fibro elastosis

同

endocardial fibroelastosis

「心内膜線維弾性症」

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英

endocardial fibroelastosis

「endocardial」

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• adj.

• 心内膜の、内心膜性の

関

endocardium