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Wednesday, Dec 03, 2008 | 02:06 PM
Madisons Foundation - Moms And Dads In Search Of Needed Support
Endocardial Fibroelastosis
Sunday, 06 February 2005
Last Updated Sunday, 06 February 2005
What
Endocardial fibroelastosis (EFE) is a condition that produces thickening of the heart muscle in infants resulting in progressive heart failure. The thickening is caused by the deposition of collagen in the heart muscle, possibly due to viral infection, during pregnancy. EFE was first described in 1943.Who
EFE used to occur as commonly as one in every 5,000 births. The incidence has fallen dramatically in recent years possibly due to the wide use of the MMR (measles-mumps-rubella) vaccine. In 10% of cases, a family history is present. Boys and girls of all ethnicities are affected equally.Signs and Symptoms
Eighty percent of babies with EFE develop progressive heart failure within the first 6 months of life. At birth, fever and rash may be present. The onset of symptoms after one year of age is rare. Babies with EFE can develop acute severe heart failure or a milder chronic course. Symptoms of heart failure include rapid breathing, difficulty feeding, excessive sweating, failure to grow, wheezing, paleness, and blueness of the hands and feet. Twenty percent of babies have recurrent lung infections. The liver and spleen may be enlarged.Possible Causes
The cause of EFE is unknown. An infection during pregnancy, such as with the mumps or coxsackie virus, may be the cause in some cases. EFE cannot be blamed on anything the parents did or did not do. The risk of having a second child with EFE is 5%.Diagnosis
A prenatal ultrasound can identify early heart failure. In the newborn, a chest x-ray may show an enlargement of the heart, and/or fluid may collect in the lungs or around the heart. Structural abnormalities of the heart such as valve narrowing, holes in the cardiac muscle, and poorly developed muscle may be present. An echocardiogram of the heart is very important to determine the presence of heart defects and to see how well the heart is working. An electrocardiogram may show abnormal rhythms of the heart beats. Cardiac catheterization may be required. For this procedure, a catheter is placed from the neck or groin to inject a dye into the heart to measure the pressure in the different chambers and to assess the heart muscle function. A biopsy of the heart muscle can be obtained during catheterization to confirm the diagnosis of EFE. On biopsy, excessive collagen will be found in the heart muscle.Treatment
Heart failure must be treated with medications such as digoxin to improve the heart’s pumping ability. Surgical replacement of a heart valve may be necessary. Blood thinning with heparin or warfarin may be required to prevent blood clots. If the heart failure can not be treated successfully with medication, then heart transplantation may be required.Prognosis
One third of children with EFE die early in infancy; another third experience chronic heart failure. The remaining third recover completely. Prognosis is worse if heart failure occurs very early in infancy. Blood clots can lead to heart attacks, strokes, and pulmonary embolisms (obstruction of blood flow to lungs).Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.Weblinks
Congenital Heart Information Network (C.H.I.N)
International organization providing information, support services and resources.
American Heart Association
Provides news, publications, advocacy.
NIH/National Heart, Lung and Blood Institute
Provides education, information about clinical trials, outreach, and special events.
March of Dimes Birth Defects Foundation
Non-profit organization providing support groups, education, information about research studies, counseling, and family networking.
The Fetus.net
Interesting prenatal ultrasound images of EFE.