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What Is Endocardial Fibroelastosis?

By Meshell Powell
Updated May 17, 2024
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Endocardial fibroelastosis is a type of rare heart disorder that affects infants and children. This condition causes the lining of the chambers of the heart to become abnormally thick due to an overgrowth of fibrous tissue. Many cases of otherwise unexplained heart failure in infants and young children are attributed to endocardial fibroelastosis, often requiring a heart transplant. Symptoms may include feeding difficulties, breathing problems, or excessive sweating. Any questions or concerns about endocardial fibroelastosis in an individual situation should be discussed with a doctor or other medical professional.

The exact cause of endocardial fibroelastosis is not always known, although there are several potential contributing factors to be considered. Genetic factors may lead to the development of this disorder in some cases. Viral infections, such as the mumps, during fetal development may also cause endocardial fibroelastosis.

Feeding difficulties and a failure to gain weight may be signs of endocardial fibroelastosis, although other medical conditions may need to be ruled out before this is considered as the cause. The skin may appear pale or blue due to a lack of sufficient oxygen in the blood. Fever may sometimes be present, and blood tests may reveal a low red blood cell count or a high white blood cell count. A doctor may detect faint heart sounds when using a stethoscope to evaluate the patient.

Breathing problems are common among those with endocardial fibroelastosis. Coughing and wheezing are particularly common among those with this disorder, and breathing may become painful or labored. A history of recurrent respiratory infections may be an indicator of this heart disorder. In some cases, there are no warning signs of this disorder, and death is sudden and completely unexpected. It is not uncommon for this condition to remain undiagnosed until after an autopsy is performed to determine the cause of death.

There is no specific standard treatment for endocardial fibroelastosis, and individual symptoms are treated and managed as they become noticeable. In cases of severe heart damage, a heart transplant may become necessary. A child who undergoes a heart transplant will have to take prescription medications for the remainder of his or her life in an effort to prevent the body from rejecting the transplanted organ. The transplanted heart does not typically run the risk of developing this disorder, although the patient will need to be closely monitored by a physician so that any complications can be diagnosed and treated as early in the disease process as possible.

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