Endocardial fibroelastosis is a rare heart disease that thickens the lining of the heart chambers in infants and children, often leading to heart failure and requiring a transplant. Symptoms include feeding difficulties, breathing problems, and pale skin. The cause is unknown but may be genetic or caused by viral infections. Treatment is based on managing symptoms and may require a heart transplant.
Endocardial fibroelastosis is a rare type of heart disease 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 can 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 isn’t always known, although there are several potential contributing factors to consider. Genetic factors can lead to the development of this disorder in some cases. Viral infections, such as mumps, during fetal development can also cause endocardial fibroelastosis.
Difficulty feeding and failure to gain weight can be signs of endocardial fibroelastosis, although other medical conditions may need to be ruled out before this is considered the cause. The skin may appear pale or bluish due to lack of sufficient oxygen in the blood. Sometimes there may be a fever and blood tests may reveal a low number of red blood cells or a high number of white blood cells. 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 especially common among those with this disorder, and breathing can become painful or labored. A history of recurring respiratory infections can 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 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 soon as they become apparent. If you have severe heart damage, you may need a heart transplant. A child undergoing a heart transplant will need to take prescribed medications for the rest of their life in an effort to keep the body from rejecting the transplanted organ. The transplanted heart is generally not at risk of developing this disorder, although the patient will need to be closely monitored by a doctor so that any complications can be diagnosed and treated as early in the disease process as possible.
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