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.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 58 free, full-text research articles on human participants. First 3 results:

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

Go To URL
Secondary endocardial fibroelastosis in an adult: three-year follow-up by cardiac magnetic resonance imaging.
 

Author(s): Dipti Gupta, Esosa G Odigie-Okon, Scott Ratner, Madhavi Kadiyala, Jie J Cao

Journal: Tex Heart Inst J. 2012 ;39(5):761-3.

 

Last Updated: 30 Oct 2012

Go To URL
Primary endocardial fibroelastosis presenting in a young child as incessant ventricular tachycardia and dilated cardiomyopathy.
 

Author(s): Swati O Arya, Peter P Karpawich, Pooja Gupta, Sujatha Buddhe, Harinder R Singh, Yaser Hussein, Srinath T Gowda

Journal: Tex Heart Inst J. 2012 ;39(5):714-8.

 

Endocardial fibroelastosis is a cardiomyopathy not commonly seen in the present age. We describe the case of a 4-year-old girl who presented with sustained incessant ventricular tachycardia, a severely dilated left ventricle, and cardiac dysfunction refractory to all medical management ...

Last Updated: 30 Oct 2012

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Endocardial fibroelastosis" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.