Endocardial fibroelastosis

Common Name(s)

Endocardial fibroelastosis

Endocardial fibroelastosis (EFE) is a rare heart (cardiac) condition which usually begins in infancy or early childhood. With EFE, the innermost muscular lining of the heart is thicker than normal because too much supportive connective tissue and elastic fibers grows. This situation causes an enlarged heart (cardiac hypertrophy), especially of the left ventricle (one of the four chambers of the heart). In rare cases, the left ventricle is small and the right ventricle is enlarged. The ventricles are the pumping lower chambers of the heart. In addition, in about 50% of the cases of EFE, one of the valves in the heart (which control the flow of blood between heart chambers) does not work correctly. All of this makes it hard to the heart to pump blood, and if left untreated, can lead to congestive heart failure.

Symptoms of EFE include difficulty feeding, excessive sweating, breathlessness, slow growth, fatigue, and possible abdominal pain. Symptoms usually appear between 4-12 months of age. The cause of most cases of EFE is unknown although infection of the heart during pregnancy or early infancy may be a factor. About 10% of EFE cases run in families. The X-linked type involves the EFE2 gene. The autosomal recessive type involves the gene EFE1.

In recent years, diagnosis occurs more frequently during pregnancy. Whether diagnosis occurs before or after birth, blood tests, electrocardiogram (EKG), certain types of ultrasounds, and MRIs may be used for diagnosis. Treatment usually includes different medications to help the heart work better, but depends on how much heart damage is already present. In advanced cases, a heart transplant may be necessary for the child. Research is ongoing, so talk to your child’s pediatric cardiologist (heart doctor for children) for the most current treatment options. Genetic counselors and support groups are also good sources of information and can help connect you with other families affected by EFE.

Source: Advocacy organizations associated with the condition.

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Endocardial fibroelastosis" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Endocardial fibroelastosis" returned 60 free, full-text research articles on human participants. First 3 results:

Distention of the Immature Left Ventricle Triggers Development of Endocardial Fibroelastosis: An Animal Model of Endocardial Fibroelastosis Introducing Morphopathological Features of Evolving Fetal Hypoplastic Left Heart Syndrome.
 

Author(s): Shogo Shimada, Christian Robles, Ben M W Illigens, Alejandra M Casar Berazaluce, Pedro J del Nido, Ingeborg Friehs

Journal: Biomed Res Int. 2015 ;2015():462469.

 

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). Recent advances in fetal imaging indicate that EFE development is directly associated ...

Last Updated: 11 Jun 2015

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Endocardial fibroelastosis is caused by aberrant endothelial to mesenchymal transition.
 

Author(s): Xingbo Xu, Ingeborg Friehs, Tachi Zhong Hu, Ivan Melnychenko, Björn Tampe, Fouzi Alnour, Maria Iascone, Raghu Kalluri, Michael Zeisberg, Pedro J Del Nido, Elisabeth M Zeisberg

Journal: Circ. Res.. 2015 Feb;116(5):857-66.

 

Endocardial fibroelastosis (EFE) is a unique form of fibrosis, which forms a de novo subendocardial tissue layer encapsulating the myocardium and stunting its growth, and which is typically associated with congenital heart diseases of heterogeneous origin, such as hypoplastic left ...

Last Updated: 27 Feb 2015

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Primary endocardial fibroelastosis of the left ventricle.
 

Author(s): Albert J Miller

Journal: Tex Heart Inst J. 2012 ;39(6):913-4.

 

Last Updated: 10 Jan 2013

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Reviews from the PubMed Database

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The terms "Endocardial fibroelastosis" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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