Endocardial Fibroelastosis
Crystal M Lopez
Florida Southwestern State College
Abstract
The human body is so extravagant, and with such complexity, there is a larger risk for complications. Endocardial fibroelastosis (EFE) is among the many dangers that exist. This incredibly rare disease is the enlargement in the innermost lining of the heart due to an excessive amount of connective tissue. The heart is the strongest muscle in the body, and if impaired and not functioning correctly, it may have catastrophic results. This paper will be discussing exactly what endocardial fibroelastosis is, the different categorized versions of the disease, along with its likelihood and process of being or becoming impacted by it. The few and potential treatments for it, including medications and surgical procedures to help victims with the disorder. I will discuss both classic and new breakthrough procedures that apply to the different branches of the disease. Another topic that will be will covered is how someone may be affected mentally and socially with their condition or by someone they know who has the disease. Diseases take a toll on people, but with health comes sacrifice, and that is a difficult thing to deal with sometimes, especially while facing near death situations.
Background
Endocardial fibroelastosis is a disease that causes the endocardium of the heart to enlarge, causing the myocardium to not function correctly, resulting in heart failure or death (Venugopalan, 2018). While the endocardium grows larger, the myocardium, the muscular layer, is unable to constrict as easily. Not only is there a thicker chunk to squeeze, but there is a decrease in blood flow due to lack of volume in the affected chamber of the heart. Most commonly, the left ventricle, which is the patient’s upper left heart chamber, is affected by the disease. It is usually found in infants and young children, however, it can also be found in adults as well. The two different age groups determine which type of endocardial fibroelastosis the patient is diagnosed with. The children’s disorder is known as primary endocardial fibroelastosis, while the adults’ diagnosis is categorized as secondary endocardial fibroelastosis (Venugopalan, 2018). The primary disease is from a child’s genetic makeup, either a mutation occurred in the DNA of the baby, or both parents are carriers of this recessive disease (NORD, 2009). Unlike dominant diseases where only one parent is required to impact their child with their shared chromatid, recessive diseases need both parents to supply the gene, and the child needs to receive both infected alleles from mom and dad. Sometimes, one parent can pass down the disease while the other’s is lost, but, in this case, the child is only a carrier of the disease, and would not become directly affected nor show symptoms of the disorder. Secondary endocardial fibroelastosis is formed by other heart diseases (Venugopalan, 2018). This is when endocardial fibroelastosis is developed and caused by a different disorder affecting the heart. Primary endocardial fibroelastosis diverges into two branches that are categorized by how the disease is obtained. Random mutations that cause the disorder are filed under endocardial fibroelastosis 1 (EFE1), while endocardial fibroelastosis 2 (EFE2) is from both parents carrying the disease in their X genes (NORD, 2009). Neither causes can be traced from a precise location on the DNA strand. To show symptoms of this disease, both parents carrying the gene must pass on their genes to the offspring (NORD, 2009). Due to this being a recessive disease, the child of parents who are carriers has a 50% chance of being a carrier of the disease themselves, a 25% chance of having the disease with symptoms, and a 25% chance of not having the disease in their DNA (NORD, 2009).
Treatments
Heart failure is a common risk for endocardial fibroelastosis, so digoxin is prescribed long-term to help deduce the danger if it is caught early enough (Venugopalan, 2018). Digoxin is a cardiac glycoside and is used to prevent heart failure as well as strengthen the heart and help prevent clots (WebMD). Unfortunately, there are other, more invasive treatments for this disease depending on the severity and whether it was caught early enough or not. Some patients’ cases are too severe for medication, so surgical procedures are taken into action as a last resort. At this point, a heart transplant is set forth (Venugopalan, 2018). Assuming the body doesn’t reject the foreign organ, the heart transplant is the most reliable treatment. However, a new study has been shown to improve the condition of the disease in adults. The peeling of the unwanted excess of the connective tissue and elastic fibers of the endocardium is a fresh alternative treatment in adults (Carrel, 2017). Severing the layer prevents the extra tissue to regrow since it is cut off. Success has been achieved in these procedures, but it is a tedious process. So far the surgery is performed on only adults due to a threat of improper growth in diseased infants and children’s hearts if they were to be operated on (Carrel, 2017). The chamber would not be able to grow along with the child. The goal of the operation is to rid the excess connective tissue and stop the regrowth of it, thus, impairing the child’s heart, a heart transplant is the best option at this point for them. There is hope, though! The same team to succeed in peeling the nuisance of the thick layer of endocardium, are motivated to continue to find ways on how to help the children as well (Carrel, 2017).
Implications
It is always difficult for people to deal with life threatening situations. Endocardial fibroelastosis restricts blood flow to the rest of the body since it allows the heart to pump a small amount of blood. With that being said, the patient is usually on a bed rest (NORD, 2009). Of course, the patient is not the only one being affected by this disease. The family and friends suffer along with the patient. As a support system, the family sometimes needs reassurance themselves, so they take up counseling (NORD, 2009). However, some families receive the option of saving themselves from the pain of seeing their living child slowly die, but at another heavy cost. If caught early enough in a pregnancy, parents are made to make a devastating decision. As controversial as it may be, terminating the pregnancy may be the best option for some parents. They’d rather sever the chance of watching someone struggle to live. This decision is difficult to make for anyone, but sometimes it is necessary for the greater good. With an echocardiogram, doctors can detect a heart disease around the 24th week of pregnancy (Medicine, 2016). However, abortions are frowned upon whether if it’s necessary or not. People with different beliefs hold place a stigma on the action regardless of the situation. If the pregnancy is terminated, the child will not suffer the effects of endocardial fibroelastosis. However, the complete opposite is offered if the parents decide to keep the child. The kid will have to suffer from many trips to the hospital and a possible heart transplant that will rack up a lot of debt for the parents. Many aspects can potentially not work when someone has an organ transplant. Something might go wrong with the surgery, or the body may reject the new organ, and that arises more situations. The cost for one heart transplant in the United States can climb up to almost half a million dollars, sometimes more (Fortune, 2017). The child would also be on bed rest, since their heart’s productivity would be more limited than that of a child without endocardial fibroelastosis. With all of this being said, the child may have their disease maintained enough by medications, or the new heart may be welcomed by the body following a transplant. There is always a risk, and some people are willing to take it, however, others might not want to.
Conclusion
Endocardial fibroelastosis is the thickening of the endocardium, normally in the left ventricle. The connective tissue grows until there is a small volume in the chamber, making it difficult for the myocardium, the muscular layer of the heart, to squeeze the ventricle enough to have an normal amount of blood to cycle through the heart. The lack of blood flow may result in heart failure, and if not treated properly or caught early enough, may end in death to the patient. There are two different types of endocardial fibroelastosis, primary and secondary, and within primary, there are two more vectors of the disease depending on how the disease is obtained. Primary endocardial fibroelastosis is in infants and young children, EFE1 is due to mutations in a child’s DNA resulting in the disease, while EFE2 is obtained by both parents since it is a recessive disease. Secondary endocardial fibroelastosis is when older individuals get the disease, usually it develops from an already existing heart disease the patient has. Treatments include medications such as digoxin, a medication to prevent heart failure and is used to help strengthen the heart. Heart transplants are performed if the digoxin does not work, or if the disease is too severe to be helped with medication. There is another alternative to a heart transplant in secondary endocardial fibroelastosis only, and that is the peeling of the endometrium to increase the volume of the infected chamber. Sometimes the disease is caught with enough time to prevent a hard life for a newborn child, and the parents have to make the decision of whether or not they’d like to terminate the pregnancy. Abortion is very controversial, and the parents may receive negative feedback from their family, friends, and peers if they decide to kill off the child. On the flip side, the parents may continue with the pregnancy and have the child frequent the doctors, as well as be on bed rest, and there is a possibility that the kid might need a heart transplant. All of those things will both cost the parents a lot of money, and emotional drain. It’s not an easy thing to see a child with a medical condition and not be able to play outside with friends like any normal kid. However, the baby’s condition may not be too severe and be able to be held at bay with only medications. It’s a difficult choice, but some parents do have to make it. Luckily, this disease is incredibly rare, so very few have to endure this painful journey.
References
Venugopalan, P. (2018, August 01). Endocardial Fibroelastosis. Retrieved from https://emedicine.medscape.com/article/896375-overview#showall
NORD (2009). Endocardial Fibroelastosis. Retrieved from https://rarediseases.org/rare-diseases/endocardial-fibroelastosis/
Digoxin Oral : Uses, Side Effects, Interactions, Pictures, Warnings & Dosing. (n.d.). Retrieved from https://www.webmd.com/drugs/2/drug-4358/digoxin-oral/details
Carrel, T., MD. (n.d.). Peeling the left ventricle as treatment for endocardial fibroelastosis: An exceptional surgical procedure in adults. Retrieved from https://www.jtcvs.org/article/S0022-5223(17)31365-X/pdf.
Medicine (Baltimore). (n.d.). Approach an appropriate decision on fetus with endocardial fibroelastosis in collaboration with cardiovascular profile score. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5265820/
Here's What Every Organ in the Body Would Cost to Transplant. (n.d.). Retrieved from http://fortune.com/2017/09/14/organ-transplant-cost/