Giant Cell Myocarditis: Paying attention to rare diseases

About the size of a personal pager, the Guidant/CPI Ventak implantable defibrillator is shown in Springfield, Mo., Thursday, July 24, 1997. It combines a pacemaker and defibrillator into a sophisticated computer and is implanted under the skin. The device received FDA approval on Monday, July 21, 1997.  (AP Photo/John S. Stewart)

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About the size of a personal pager, the Guidant/CPI Ventak implantable defibrillator is shown in Springfield, Mo., Thursday, July 24, 1997. It combines a pacemaker and defibrillator into a sophisticated computer and is implanted under the skin. The device received FDA approval on Monday, July 21, 1997. (AP Photo/John S. Stewart)

Cancer is a disease that can be deadly. With fundraisers all across the country to help with research and finding cures, the risk of cancer, especially misdiagnosis, is very well known by many. Many individuals have heard of myocarditis, but Giant Cell Myocarditis is a rare disease that is not as well known. Though the survival rate of Giant Cell Myocarditis is higher than cancer, the difficulty in identifying it is what can make the disease as traumatically eventful as cancer.

What is it?
Giant Cell Myocarditis is a rare cardiovascular disease. Myocarditis is a condition where there is inflammation of the heart muscle. A widespread infiltration of giant cells, abnormal masses of cells produced by the fusion of macrophages, cause the inflammation. Giant Cell Myocarditis causes abnormal heartbeat, chest pain, and ultimately heart failure. Most patients of the disease are young adults and end up needing a heart transplant afterwards.

Signs and Symptoms
The symptoms are rapid and could be looked at as a domino effect. Symptoms include swelling of the ankles, chest pain, heart palpitations, fatigue, and shortness of breath (lying flat or exerting energy). Patients with the disease develop irregular heartbeats. These irregular heartbeats can lead to lightheadedness or loss of consciousness. All these symptoms are due to congestive heart failure or heart block.

Congestive heart failure causes a weakening of the heart’s pumping action which limits the ability to circulate blood to vital organs. This happens when there is an abnormal enlargement in one or more of the chambers that brings blood to the heart. The other cause, heart failure, can come in three degrees. In the first degree the two upper chambers of the heart beat normally, but the two lower chambers are a beat behind. In the second degree not all the heart beats are
conducted to the chambers of the heart. The third degree is a complete heart block and the heart and chambers are not on the same beat. Both congestive heart failure and heart block eventually, on average about 5 months, result in life-threatening complications to the heart.

The Issue
What makes Giant Cell Myocarditis such a scary disease is that the exact cause of the disease is unknown. This makes it very easy to misdiagnose. The first few symptoms may make an individual feel like they are simply suffering from the flu. However, 20 percent of cases of the disease occur in someone who is suffering from an autoimmune disorder. The autoimmune disorder that usually associates with Giant Cell Myocarditis is an inflammatory bowel disease, though some cases have been associated with a tumor behind the breastbone. Since neither of these are definitive causes, it is easy to misdiagnose. Essentially, Giant Cell Myocarditis can only be diagnosed by a heart biopsy, yet those results can be confused with another disease because of how rare the disease is.

In addition, the treatment for Giant Cell Myocarditis also makes the disease so frightening. Many patients end up needing a heart transplant as a treatment for the disease, but, unfortunately, in some cases giant cells may infiltrate again after transplantation.

Conclusion
As a whole, the country puts more attention on common diseases that have a high death rate; before, it was polio and pneumonia and now it’s cancer. However, rare diseases that are easily misdiagnosed and have long recovery processes, such as Giant Cell Myocarditis, are overlooked.

Source: https://rarediseases.org/rare-diseases/giant- cell-myocarditis/