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Last updated:
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NORD gratefully acknowledges Leslie T. Cooper Jr., MD, Chair, Cardiovascular Department, Mayo Clinic in Florida, Professor of Medicine, Mayo Clinic, for assistance in the preparation of this report.
Giant cell myocarditis is a rare cardiovascular disorder that occurs for unknown reasons (idiopathic). It is characterized by inflammation of the heart muscle (myocardium), a condition referred to as myocarditis. Inflammation is caused by widespread infiltration of giant cells associated with other inflammatory cells and heart muscle cell destruction. Giant cells are abnormal masses produced by the fusion of inflammatory cells called macrophages. Individuals with giant cell myocarditis may develop abnormal heartbeats, chest pain and, eventually, heart failure. Many individuals eventually require a heart transplant. The disorder most often occurs in young adults.
The onset of symptoms of giant cell myocarditis is often rapid. Initial symptoms may include swelling of the ankles, chest pain, heart palpitations, fatigue and shortness of breath (dyspnea) especially upon exertion or lying flat. Affected individuals eventually develop irregular heartbeats (arrhythmias) such as abnormally fast (tachycardia) or slow (brachycardia) heartbeats. Arrhythmias may cause sudden episodes of lightheadedness or loss of consciousness.
The above-mentioned symptoms of giant cell myocarditis occur due to congestive heart failure or heart block. These two heart abnormalities are progressive and eventually result in life-threatening complications. In individuals with giant cell myocarditis, the average time from symptom onset to life-threatening complications or heart transplant is five and a half months.
The normal heart has four chambers. The two upper chambers, known as atria, are separated from each other by a fibrous partition known as the atrial septum. The two lower chambers are known as ventricles and are separated from each other by the ventricular septum. Valves connect the atria (left and right) to their respective ventricles. The valves allow for blood to be pumped through the chambers. Blood travels from the right ventricle through the pulmonary artery to the lungs where it receives oxygen. The blood returns to the heart through pulmonary veins and enters the left ventricle. The left ventricle sends the now oxygen-filled blood into the main artery of the body (aorta). The aorta sends the blood throughout the body.
Congestive heart failure is a condition in which abnormal enlargement or widening (dilatation) of one or more of the chambers of the heart results in weakening of the heart’s pumping action, causing a limited ability to circulate blood to the lungs and the rest of the body. This leads to fluid buildup in the heart, lungs and various body tissues. In some cases, all four chambers of the heart may be affected. Symptoms may include fatigue, shortness of breath (dyspnea) upon exertion, swelling of the legs and feet, and chest pain.
Heart block may be partial or complete. In the mild form of heart block (first degree), the two upper chambers of the heart (atria) beat normally, but the contractions of the two lower chambers (ventricles) slightly lag behind. In the more severe forms (second degree), not all of the atrial beats are conducted to the ventricles. In complete heart block (third degree), the atria and ventricles beat independently. Individuals with first- or second-degree heart block may not experience symptoms (asymptomatic). However, individuals with complete heart block may experience episodes of unconsciousness (syncope), breathlessness, and/or fatigue.
The exact cause of giant cell myocarditis is unknown. Approximately 20 percent of cases occur in individuals with autoimmune disorders suggesting that autoimmunity may play a role in the development of giant cell myocarditis. Autoimmune disorders are caused when the body’s natural defenses against “foreign” or invading organisms begin to attack healthy tissue for unknown reasons.
Autoimmune disorders associated with giant cell myocarditis include inflammatory bowel disease such as Crohn’s disease. Some cases of giant cell myocarditis have been associated with a tumor of the thymus (thymoma). The thymus is a relatively small organ behind the breastbone that is thought to play an important role in the immune system until puberty.
Giant cell myocarditis affects males and females in equal numbers. It can affect individuals of any age although most cases occur in young or middle-aged adults (median age 42 years). Approximately 300 cases have been reported in the medical literature.
A diagnosis of giant cell myocarditis is made by biopsy of heart tissue. A biopsy is a test in which small tissue sample is surgically removed and studied microscopically. Tests to exclude other cause of heart abnormalities may also be performed. These tests may include echocardiogram and cardiac catheterization.
Treatment
Standard and supportive treatment options for cardiac failure and arrhythmias are recommended. These treatment options may include the insertion of a pacemaker or implantable heart defibrillator.
Affected individuals may require a heart transplant. Affected individuals are often evaluated for heart transplantation shortly after diagnosis. In 20-25% of patients, infiltration of giant cells has recurred after heart transplantation. Immunosuppresssion with drugs that include cyclosporine prolong survival free of transplantation. GCM can recur after therapy in both the native and allografted heart.
Researchers are studying the use of immunosuppressive drugs combined with steroids to treat individuals with giant cell myocarditis. For more information contact:
Myocarditis Program at Mayo Clinic
4500 San Pablo
Jacksonville FL 32224
Phone: (904) 953-6351
e-mail: cooper.leslie@mayo.edu
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
Contact for additional information about giant cell myocarditis:
Leslie T. Cooper Jr., MD
Chair, Cardiovascular Department, Mayo Clinic in Florida
Professor of Medicine
Mayo Clinic
4500 San Pablo Road
Jacksonville, FL 32224
904-956-8400 office
904-953-2911 fax
cooper.leslie@mayo.edu
JOURNAL ARTICLES
Ekström K Lehtonen J, Kandolin R, et al. Long- term outcome and its predictors in giant cell myocarditis. Eur J Heart Failure 2016 Jul 13 [E-pub ahead of print].
Maleszewski JJ, Orellana VM, Hodge DO. Kuhl U. Schultheiss HP. Cooper LT Long-term risk of recurrence, morbidity and mortality in giant cell myocarditis. American Journal of Cardiology. 2015 Jun 15; 115(12): 1733-8.
Kandolin R, Lehtonen J, Salmenkivi K, et al. Diagnosis, treatment, and outcome of giant-cell myocarditis in the era of combined immunosup- pression. Circ Heart Failure 2013;6:15–22.
Cooper LT, Hare JM, Tazelaar HD, Edwards WD, Starling RC, Deng MC, Menon S, Mullen GM, Jaski B, Bailey KR and Dec GW for the Giant Cell Myocarditis Treatment Trial Investigators Usefulness of Immunosuppression for Giant Cell Myocarditis. Am J Cardiol. 2008; 102:1535-1539.
Cooper LT, Giant Cell and Granulomatous Myocarditis, in Heart Failure Clinics of North America, Ed, Dec, GW, 2005; 1(3) 431-437.
Cooper LT, Berry GJ, Shabetai R. Idiopathic giant-cell myocarditis/natural history and treatment. N Engl J Med. 1997;336:1860-6.
INTERNET
Myocarditis. May 20, 2022. https://www.mayoclinic.com/health/myocarditis/DS00521 Accessed Dec 7, 2022.
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