Ebstein’s anomaly (Ebstein’s malformation) is a rare congenital condition. It is characterized by an abnormality in the location and functionality of the heart valve (tricuspid) that separates the right upper and lower heart chambers. The abnormality mainly strikes Caucasians. It causes blood in the tricuspid valve to flow the wrong way. It should flow to the lungs, but it goes to the bottom chamber.
It can lead to very serious complications including an enlarged heart, brain abscess, liver swelling, blood clots and eventual heart failure.
Symptoms of Ebstein’s anomaly may be slight or unapparent, and it can worsen over time. Symptoms are not always present in infants, but severe symptoms can be present from birth.
Infant symptoms include
Children and adult symptoms include
Ebstein’s anomaly is a congenital heart condition, so babies are born having it. There are many theories about the cause of this condition, though there is no proven cause. There is a theory that it is caused by a chromosomal abnormality. It is also possible that it is caused by the exposure to specific environmental factors. It also may develop as a result of genetic links. Two or more of these conditions may combine to cause this heart condition to arise.
When the mother is white, the baby has a higher chance of developing this condition. There is no difference in the instance between boys and girls. There have been a few links between the condition and a number of environmental factors involving the mother. It is possible that the ingestion of lithium by the mother during the first trimester can lead to this condition. It may also be caused by benzodiazepine use by the mother. If she has a history of miscarriages or was exposed to varnishing substances, these may be risk factors. It is also possible that this condition develops by chance, without any specific cause.
After diagnosis of Ebstein’s anomaly, treatment may include:
Ebstein’s anomaly cannot be prevented, but certain medications during pregnancy including benzodiazepines and lithium increase the risk of being born with the defect.
There is currently no known way to prevent Ebstein’s anomaly. You should talk to your OB/GYN about the medication you are taking. You may need to stop taking medications such as lithium during your pregnancy to reduce the risk of this condition. If you have a family history of this condition or have had a previous fetal loss, discuss this with your doctor as well. Avoid varnishing furniture or coming into contact with varnishing supplies. If the cause is genetic, there may be no way to prevent the development of Ebstein’s anomaly.