We're celebrating
40 years!
Last updated:
April 24, 2015
Years published: 1986, 1989, 2003, 2009, 2012, 2015
NORD gratefully acknowledges Lori A Blauwet, MD, Associate Professor of Medicine, Division of Cardiovascular Diseases, Mayo Clinic, Rochester, for assistance in the preparation of this report.
Endomyocardial fibrosis (EMF) is a progressive disease of unknown origin (idiopathic) that may seriously affect the heart. Its most obvious feature is a gross change in the makeup of the lining of the heart cavities (the endocardium) of one or both of the lower chambers of the heart (the ventricles) leading to the replacement of normal cells with fibrous tissue (fibrosis). This process is progressive and leads to the narrowing (constriction) of the right or left ventricular cavities. It may involve the valves between the chambers of the heart as well as the tendon-like cords that fix the valves to the ventricles (chordae tendineae).
Loeffler’s disease is a disease of the heart much like endomyocardial fibrosis. Some clinicians regard it as an early stage of EMF, although this idea remains controversial. Loeffler’s disease is a rare disorder of unknown origin, characterized by abnormal increases in the number of particular white blood cells (eosinophilia), and like EMF, gross fibrosis of the endocardium, and inflammation of small blood vessels (arteritis).
The main microscopic feature of endomyocardial fibrosis (as well as of Loeffler’s disease) is fibrosis of the inner lining of the heart cavities (the endocardium). This means that the normal endocardium is replaced by a thick, inelastic tissue. The fibrotic lesions may be over 1 cm thick and may extend finger-like projections into the heart muscle (the myocardium).
Fibrosis frequently affects the heart asymmetrically. It may specifically involve one or more of the following areas: the top (apex) of the left ventricle, the back (posterior) wall of the left ventricle including the fibrous cords that connect the valves to the ventricles (the chordae tendineae), and the top (apex) of the right ventricle, extending backwards to encase the muscle and cords (chordae tendineae) attaching the heart valve (tricuspid).
If fibrosis of the left ventricle is predominant, then blood flow from the right side of the heart is reduced often with mitral valve failure causing back-flow (regurgitation) of blood. The results may include pulmonary venous hypertension and left ventricular enlargement. Abnormal heartbeat patterns (atrial fibrillation or atrial arrhythmia) are common. Difficulty in breathing (dyspnea) especially, but not exclusively, on physical exertion is the major physical sign.
If fibrosis of the right ventricle is predominant, then circulation is restricted often with tricuspid valve failure, causing backflow (tricuspid regurgitation). Enlargement of the heart (cardiomyopathy) because of right atrial dilatation is often seen. Facial swelling (edema), swelling of the legs, enlargement of the spleen and liver (hepatosplenomegaly), and an accumulation of fluid in the abdominal cavity (ascites) are to be expected.
Biventricular fibrosis with circulation features is a mixture of the two forms listed above. That is, the symptoms are a combination of left and right ventricular fibrosis.
The extracardiac manifestations of Loeffler’s disease include emboli to the brain (stroke), spotty (petechial) hemorrhages, and an enlarged liver (hepatomegaly).
At this time, clinicians believe that an as yet unknown immunological process is the preferred explanation for the cause of most cases of endomyocardial fibrosis and Loeffler’s disease. In the past, the cause of both conditions was attributed to the presence of the filaria worm in patients or to poor nutrition. Widespread infection with such worms and poor diets are typical in the tropical regions in which these disorders are more common. Eosinophils have been observed in some cases of endomyocardial fibrosis, suggesting a form of hypersensitivity may play a role in select cases. In children, endomyocardial fibrosis has been associated with the mumps virus.
Endomyocardial fibrosis is principally an endemic disease of the equatorial tropics. It is exceedingly rare in Europe and North America. It affects all races, mostly children and young adults. The disease has been described in a few patients over 60 years of age and, rarely, in patients younger than 5 years of age.
Echocardiography is the primary tool used to diagnose suspected cases of endomyocardial fibrosis or Loeffler’s disease. A heart muscle biopsy is sometimes obtained to confirm the diagnosis.
Treatment
Responses to medical treatment are generally poor and unproven. For patients with severe symptoms, surgical treatment may be pursued when other treatments have not been successful. These procedures, however, are not without risk. Mortality as a consequence of surgery may be as high as 20%. Successful surgery reduces symptoms and increases survival times and rates.
Surgery is usually designed (1) to take out the fibrous endomyocardium so that the ventricles can be filled with blood once more; (2) to repair or replace the mitral or tricuspid valve (or both), if one or another is involved; and (3) to leave a portion of fibrous endocardium in place to prevent postoperative heart block.
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
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/
Endomyocardial Fibrosis Resources
TEXTBOOKS
Braunwald E. Ed. Heart Disease: A Textbook of Cardiovascular Medicine. 8rd ed. W.B. Saunders Company, Philadelphia, PA; 2008.
Fauci AS, Braunwald E, Isselbacher KJ, et al. Eds. Harrison’s Principles of Internal Medicine. 14th ed.McGraw-Hill Companies. New York, NY; 1998:1332.
REVIEW ARTICLES
Burlew BS, Weber KT. Cardiac fibrosis as a cause of diastolic dysfunction. Herz. 2002;27:92-98.
Andy JJ. Aetiology of endomyocardial fibrosis (EMF). West Afr J Med. 2001;20:199-207.
Lijnen PJ, Petrov VV, Fagard RH. Induction of cardiac fibrosis by transforming growth factor-beta (1). Mol Genet Metab. 2000;71:418-35.
Nicoletti A, Michel JB. Cardiac fibrosis and inflammation: interaction with hemodynamic and hormonal factors. Cardiovasc Res. 1999;41:532-43.
JOURNAL ARTICLES
Joshi R. Abraham S, Kumar AS. New approach for complete endocardiectomy in left ventricular endomyocardial fibrosis. J Thorac Cardiovasc Surg. 2003;125:40-42.
Pawlinski R, Fernandes A, Kehrle B, et al. Tissue factor deficiency causes cardiac fibrosis and left ventricular dysfunction. Proc Nat Acad Sci U S A. 2002;99:15333-338.
Barretto AC, Mady C, Oliveira SA et al. Clinical meaning of ascites in patients with endomyocardial fibrosis. Arq Bras Cardiol. 2002;78:196-99.
Radhakumary C, Kumari TV, Kartha CC. Endomyocardial fibrosis is associated with selective deposition of type I collagen. Indian Heart J. 2001;53:486-89.
Santos C.L., Moraes CR, Santos FL, et al. Endomyocardial fibrosis in children. Cardio Young. 2001;11:205-09.
INTERNET
Sovari, AA. Endomyocardial fibrosis.Medscape. Last Update: Updated: Nov 25, 2014 www.emedicine.com/med/topic677.htm Accessed April 21, 2015
Hassan SA. Loeffler endocarditis Medscape. Last Update: Updated: Feb 17, 2015
www.emedicine.com/med/topic1318.htm Accessed April 21, 2015.
NORD strives to open new assistance programs as funding allows. If we don’t have a program for you now, please continue to check back with us.
NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.
Learn more https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.
Learn more https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.
Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/