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Eisenmenger Syndrome

Synonyms of Eisenmenger Syndrome

  • Eisenmenger Complex
  • Eisenmenger Disease
  • Eisenmenger Physiology
  • Eisenmenger Reaction

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Eisenmenger syndrome is a rare progressive heart condition that develops in some individuals with structural malformations of the heart that are present from birth (congenital heart defects). The disorder is characterized by increased blood pressure in the main blood vessel (pulmonary artery) connecting the heart to the lungs (pulmonary hypertension) and improper blood flow within the heart.

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.

The most common congenital heart defect associated with Eisenmenger syndrome is a ventricular septal defect (VSD) or a "hole in the heart" between the two lower chambers of the heart (left ventricle and right ventricle. This defect allows blood to flow from the left ventricle into the right ventricle (left-to-right shunt). The shunt causes increased blood flow into the lungs eventually resulting in pulmonary hypertension, which causes progressive damage to the small blood vessels in lungs (pulmonary vascular disease). As the damage continues, pulmonary hypertension increases and the small blood vessels become thickened or blocked hampering the flow of blood. Ultimately, blood flow is reversed back through the shunt so that blood flows from the right ventricle into the left ventricle (right-to-left shunt) bypassing the lungs completely. A variety of symptoms including life-threatening complications may occur.

Eisenmenger syndrome specifically refers to the combination of pulmonary hypertension and right-to-left shunting of the blood within the heart.

Symptoms

The specific symptoms of Eisenmenger syndrome vary greatly from case to case. Symptoms and signs often do not occur until about the second or third decade of life; however, they may develop more rapidly in some cases. Most symptoms result from insufficient oxygen supply to body cells (hypoxia).

The most notable symptom is often bluish discoloration of the skin and mucous membranes (cyanosis). Individuals with Eisenmenger syndrome typically develop intensification of cyanosis, particularly of the lips, fingernails, and toenails, and elevated levels of the blood cells (red blood cells or erythrocytes) that transport oxygen to body cells (i.e., polycythemia) due to increasingly inadequate oxygen supply to body tissues. Additional signs may include broadening of the tips of the fingers and toes (clubbing), increasing difficulties breathing (dyspnea), fatigue, lethargy, abnormal heart rhythms (arrhythmias); or additional findings. The degree of cyanosis and polycythemia varies, depending upon the duration and severity of hypoxia.

With disease progression, affected individuals develop an impaired ability of the heart to circulate adequate amounts of blood to the lungs and to the rest of the body (heart failure). Additional associated findings may include excessive accumulation of fluid in certain body tissues (edema), causing swelling of the ankles and legs; chest pain (angina pectoris), palpitations; fainting episodes (syncope) due to insufficient oxygen supply to the brain, headaches; coughing up of blood (hemoptysis); and/or other abnormalities, potentially leading to life-threatening complications such as stroke or organ failure.

Additional symptoms that may be associated with Eisenmenger syndrome include low levels of circulating red blood cells due to lack of iron (iron deficiency anemia), an increased risk of developing blood clots, prolonged bleeding, kidney disease and a condition known as tricuspid valve regurgitation. The tricuspid valve connects the right atria to the right ventricle. In this condition, the valve does not close properly allowing blood to seep back into the atria. The symptoms associated with tricuspid valve regurgitation may include weakness, fatigue, generalized swelling especially of the feet, ankles or abdomen, or heart failure.

In some cases, during infancy and early childhood, some affected individuals may have symptoms due to the underlying congenital heart defect. The most common heart defect associated with Eisenmenger syndrome is a ventricular septal defect (VSD), in which an abnormal opening exists in the fibrous partition (septum) that normally separates the two lower heart chambers. Additional associated defects include atrial septal defects (ASD) in which an abnormal opening exists in the septum separating the two upper heart chambers, patent ductus arteriosus, a condition in which the passage (ductus) between the blood vessel that leads to the lungs (pulmonary artery) and the major artery of the body (aorta) fails to close after birth; or other more complicated congenital heart defects.

Symptoms due to a VSD may vary greatly, depending on the size of the VSD, pulmonary blood flow and pressure, and other factors. Those with small VSDs may have normal pulmonary arterial pressure and no apparent symptoms (asymptomatic). Small VSDs often close spontaneously. However, some affected infants and children with large VSDs may have multiple symptoms resulting from increased pulmonary blood flow and rising pulmonary blood pressure (pulmonary hypertension). Such findings may include feeding and breathing difficulties, profuse sweating, poor growth; recurrent lung infections, an impaired ability of the heart to pump blood effectively to the lungs and on to the rest of the body (heart failure), enlargement of the heart (cardiomegaly), abnormal heart sounds (heart murmurs) that may be detected by a physician through use of a stethoscope; and/or other findings. With increasing resistance to blood flow within small blood vessels in lung tissue, such symptoms may improve. However, affected children may have decreased stamina and develop relatively mild cyanosis or bluish discoloration of the skin and mucous membranes with exertion.

As noted above, symptoms of Eisenmenger syndrome often do not become apparent until about the second or third decade of life and may be slowly progressive over several years. However, in other cases, symptom onset may be more rapid and severe (fulminant).

Causes

Eisenmenger syndrome results as a complication of certain congenital defects in which there is abnormal connection (communication) between particular heart regions or arteries (e.g., aorta and pulmonary artery). In most cases, this progressive condition occurs secondary to ventricular septal defects (VSDs) in which there is an abnormal opening in the fibrous partition (septum) that normally separates the two lower heart chambers (ventricles). A VSD allows the abnormal passage of blood between the two ventricles: Because there is normally higher pressure in the left ventricle, blood flows from the left to the right ventricle (left-to-right shunt). This increases the amount of blood flow to the lungs and leads to gradually increasing blood pressure (hypertension) in the pulmonary artery, which carries oxygen-poor (deoxygenated) blood to the lungs where the exchange of oxygen and carbon dioxide takes place.

Without early surgical correction of the underlying defect, pulmonary hypertension eventually damages small arteries (e.g., pulmonary arterioles) in lung tissue (pulmonary vascular disease), resulting in abnormal thickening, stiffness, and potential blockage of such blood vessels. These changes lead to increasing resistance to blood flow and elevating pressure in the right ventricle as it works to pump blood to the lungs. Pressure within the right ventricle may eventually equal or surpass that of the left ventricle, reversing the flow of blood through the septal defect from the right to the left ventricle (reversed or right-to-left shunt). As a result, deoxygenated blood that normally is passed on to the lungs to receive oxygen instead is pushed into the left ventricle and through the major artery of the body (aorta) for circulation to the body's tissues, leading to insufficient oxygen supply to body cells (hypoxia), bluish discoloration of the skin and mucous membranes (cyanosis), elevated levels of circulating red blood cells, and other findings characteristic of Eisenmenger syndrome.

The changes associated with this progressive syndrome may also occur as a complication of other congenital defects. These may include an abnormal opening in the septum that separates the upper heart chambers (atrial septal defects), combined atrial and ventricular septal defects (atrioventricular or endocardial cushion defects), or patent ductus arteriosus (PDA). In PDA, the channel that is present between the aorta and the pulmonary artery during fetal development fails to close after birth. As a result, some of the oxygenated blood that is normally circulated to the body via the aorta is instead returned to the lungs. In those with a large PDA, the defect may lead to increased pulmonary arterial pressure (pulmonary hypertension) and, without early surgical correction, an increased risk of developing pulmonary vascular disease and Eisenmenger syndrome. Changes associated with Eisenmenger syndrome may also occur due to other congenital defects in which there is abnormal communication between the aorta and pulmonary artery.

Affected Populations

Eisenmenger syndrome appears to affect males and females in relatively equal numbers. Experts indicate that the incidence of Eisenmenger syndrome has decreased due to prevention of prolonged pulmonary hypertension by early surgical correction of certain congenital defects (e.g., large ventricular septal defects). Approximately 8 percent of individuals with congenital heart disease develop Eisenmenger syndrome.

According to experts, in women with Eisenmenger syndrome, pregnancy is inadvisable (i.e., contraindicated). Pregnancy results in certain cardiovascular changes that may increase the risk of potentially life-threatening complications in a woman with Eisenmenger syndrome as well as the developing fetus.

Related Disorders

Symptoms of the following disorders can be similar to those of Eisenmenger syndrome. Comparisons may be useful for a differential diagnosis.

Primary pulmonary hypertension is a progressive condition of unknown origin (idiopathic) characterized by elevated blood pressure within the artery that carries deoxygenated blood to the lungs (pulmonary hypertension). It is associated with thickening of and increased resistance to blood flow within small blood vessels in lung tissue (pulmonary vascular disease); an increased burden on the lower right chamber of the heart (right ventricle), and abnormal thickening of the muscular walls of the right ventricle (hypertrophy). Associated symptoms and findings may include effort intolerance, fatigue, chest pain, headaches, dizziness, fainting episodes (syncope), cyanosis, heart murmurs, and/or other abnormalities, leading to potentially life-threatening complications. (For more information on this disorder, choose "primary pulmonary hypertension" as your search term in the Rare Disease Database.)

Tetralogy of Fallot is the most common form of cyanotic congenital heart disease. Cyanosis is the abnormal bluish discoloration of the skin that occurs because of low levels of circulating oxygen in the blood. Tetralogy of Fallot consists of the combination of four different heart defects: a ventricular septal defect (VSD); obstructed outflow of blood from the right ventricle to the lungs (pulmonary stenosis); a displaced aorta, which causes blood to flow into the aorta from both the right and left ventricles (dextroposition or overriding aorta); and abnormal enlargement of the right ventricle (right ventricular hypertrophy). The severity of the symptoms is related to the degree of blood flow obstruction from the right ventricle. If infants with tetralogy of Fallot are not treated, the symptoms usually become progressively more severe. Blood flow to the lungs may be further decreased and severe cyanosis may cause life-threatening complications. The exact cause of tetralogy of Fallot is not known. (For more information on this disorder, choose "tetralogy of Fallot" as your search term in the Rare Disease Database.)

Standard Therapies

Diagnosis
Eisenmenger syndrome and underlying congenital defects may be diagnosed based upon thorough clinical examination; identification of characteristic physical findings; a complete patient history; and a variety of tests including blood studies such as a complete blood count to determine the number of red blood cells; pulse oximetry, a simple test in which a small sensor is attached to a fingertip or an earlobe to measure how much oxygen is in a person's blood; or a thorough heart (cardiac) evaluation, which may include assessment of heart and lung sounds with a stethoscope, a chest x-ray, electrocardiography (EKG), echocardiography, and/or additional cardiac studies.

A chest x-ray may reveal structural defects of the heart such as an enlargement of the atria or ventricles. An EKG, which records the electrical activities of heart muscle, may reveal abnormal electrical patterns. During an echocardiogram, sound waves are directed toward the heart, enabling physicians to study cardiac structure, function and motion. For individuals with Eisenmenger syndrome an echocardiogram can exclude other types of cyanotic heart disease, confirm the right-to-left shunt, and estimate the degree of pulmonary hypertension.

Additional tests that may be used in some cases include magnetic resonance imaging (MRI), transesophageal echocardiogram (TEE), or cardiac catheterization. During an MRI, a magnetic field and radio waves are used to create cross-sectional images of organs and structures in the body. During a TEE, a flexible tube with a transducer attached to the end is threaded down the esophagus to the area directly behind the heart. This test allows a physician to view the heart at several different angles. Images obtained by the transducer are carried back through the tube to an attached monitor. During the cardiac catheterization, a small hollow tube (catheter) is inserted into a large vein and threaded through the blood vessels leading to the heart. Cardiac catheterization may enable physicians to withdraw blood to assess oxygen content, measure blood pressure in the heart, evaluate heart function, measure pulmonary vascular resistance, or thoroughly identify certain anatomical abnormalities.

Treatment
The treatment of Eisenmenger syndrome is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as physicians who diagnose and treat abnormalities of the heart (cardiologists), physicians who specialize in lung diseases, specialists in blood-forming tissues (hematologists), and/or other health care professionals.

In individuals who have developed Eisenmenger syndrome, recommended treatment may include the use of certain appropriate medications and other measures to help control symptoms and prevent complications, ongoing monitoring to evaluate treatment response, and certain preventive measures.

Iron supplementation may be necessary for individuals with iron deficiency anemia. Medications that reduce fluid retention and swelling (edema) associated with heart failure (diuretics) and medications that help maintain normal heart rhythms. Since these medications can affect heart rate and blood flow they can increase right-to-left shunting and decrease oxygen levels. Treatment with such medications requires close monitoring.

Affected individuals may have an increased risk of developing bacterial infections of the heart lining and valves (bacterial endocarditis); therefore, disease management includes the administration of appropriate antibiotics (antibiotic prophylaxis) prior to dental visits, and certain surgical and diagnostic procedures. In addition, careful monitoring during anesthesia is essential for any surgical procedures. Also, experts advise that pregnancy is contraindicated in women with pulmonary hypertension and Eisenmenger syndrome since it causes significant risks for both the mother and the developing fetus. Thus, it is essential that affected women have a thorough understanding of such risks and receive information, support, and guidance from their physicians and other members of their healthcare team concerning appropriate options to prevent pregnancy. Additional treatment for this disorder is symptomatic and supportive.

Individuals with Eisenmenger syndrome should avoid dehydration, high altitudes, and activities that could cause a sudden drop in blood pressure such as saunas, steam rooms or hot tubs. Other treatment is symptomatic and supportive.

Investigational Therapies

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 website.

For information about clinical trials being conducted at the National Institutes of Health (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

In late 2005, Actelion Ltd. announced that it had completed a placebo-controlled clinical study of the drug, bosentan (Tracleer). The study, known as titled Breathe-5, focused on the ability of Tracleer to increase patients' exercise capacity and decrease their pulmonary vascular resistance. Further information is available through Actelion Ltd. at www.Actelion.com or, in the United States, at (866) 291-4166.

Research suggests that individuals with Eisenmenger syndrome who do not respond to other forms of treatment may receive some benefit from the use of a class of drugs that make the blood vessels within the lungs widen (dilate) improving the flow of blood and reducing blood pressure (pulmonary vasodilators). These drugs include prostacyclin (also known as epoprostenol), bosentan (Traceleer), and sildenafil (Viagra). Initial studies demonstrate improvements in symptoms associated with Eisenmenger syndrome such as increasing exercise tolerance or decreasing pulmonary hypertension. However, these drugs affect blood flow they may increase right-to-left shunting and decrease oxygen levels. More research is necessary to determine the long-term safety and effectiveness of pulmonary vasodilators as a treatment for individuals with Eisenmenger syndrome.

Some affected individuals with significantly increased levels of circulating red blood cells (polycythemia) may benefit from the cautious use of regular phlebotomies with proper maintenance of total blood volume. Phlebotomy involves the puncturing of a vein for the purpose of letting or removal of some blood.

In some cases, recommended treatment may include lung transplantation in combination with appropriate repair of intracardiac defects. In other instances, treatment may require combined heart and lung transplantation or transplantation of both lungs (bilateral lung transplant). In one study, individuals with Eisenmenger syndrome secondary to VSD fared better with a heart-lung transplant than those who received only a lung transplant. Further research is needed to determine the long-term safety and effectiveness of such measures for the treatment of individuals with Eisenmenger syndrome.

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

Eisenmenger Syndrome Resources

Organizations:

References

TEXTBOOKS
Brickner ME. Eisenmenger Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:46-7.

Beers MH, et al., eds. The Merck Manual. 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:2208.

Fauci AS, et al., eds. Harrison's Principles of Internal Medicine. 14th ed. New York, NY: McGraw-Hill Companies, Inc.; 1998:26, 1300, 1304, 1491.

Behrman RE, et al., eds. Nelson Textbook of Pediatrics. 15th ed. Philadelphia, PA: W.B. Saunders Company; 1996:1292-94, 1295-96, 1309-10, 1329-30, 1367.

Wyngaarden JB, et al., eds. Cecil Textbook of Medicine. 19th ed. Philadelphia, PA: W.B. Saunders Company; 1992:292-93.

JOURNAL ARTICLES
Sheehan R, Perloff JK, Fishbein MC, Gjerston D, Aberle DR. Pulmonary neovascularity: a distinctive radiographic finding in Eisenmenger syndrome. Circulation. 2005;112:2778-85.

Okyay K, Cemri M, Boyac B, Yalen R, Cengel A. Use of long-term combined therapy with inhaled iloprost and oral sildenafil in an adult patient with Eisenmenger syndrome. Cardiol Rev. 2005;13:312-4.

Budts W. Eisenmenger syndrome: medical prevention and management strategies. Expert Opin Pharmacother. 2005;6:2047-60.

Agapito AF, Sousa L, Oliveira JA, et al., Eisenmenger syndrome in the adult - experience with new drugs for the treatment of pulmonary hypertension. Rev Port Cardiol. 2005;24:421-31.

Christensen DD, McConnell ME, Book WM, Mahle WT. Initial experience with bosentan therapy in patients with the Eisenmenger syndrome. Am J Cardiol. 2004;94:261-3.

Berman EB, Barst RJ. Eisengermenger's syndrome: current management. Prog Cardiovasc Dis. 2002;45:129-38.

Waddell TK, Bennett L, Kenned R, Todd TR, Keshavjee SH. Heart-lung or lung transplantation for Eisenmenger syndrome. J Heart Lung Transplant. 2002;21:731-37.

Stoica SC, McNeil KD, Perreas K, et al. Heart-lung transplantation for Eisenmenger syndrome: early and long-term results. Ann Thorac Surg. 2001;72-1887-91.

Chabot F, Vial B, Siat J, et al. Lung transplantation: indications, techniques and results. Rev Pneumol Clin. 2000;56:301-12.

Budts W, Vancleemput J, Van de Werf F. Failure of medicine: evolution of an atrial septal defect to an Eisenmenger syndrome. Acta Cardiol. 2000;55:265-67.

Franke U, Wiebe K, Harringer W, et al. Ten years experience with lung and heart-lung transplantation in primary and secondary pulmonary hypertension. Eur J Cardiothorac Surg. 2000;18:447-52.

Kansaria JJ, Salvi VS. Eisenmenger syndrome in pregnancy. J Postgrad Med. 2000;46:101-03.

Lieber S, Dewilde P, Huyghens L, Tracey E, Gepts F. Eisenmenger's syndrome and pregnancy. Acta Cardiol. 1985; 40:421-24.

FROM THE INTERNET
Mayo Clinic Web site. Treatment of Eisenmenger's Syndrome at Mayo Clinic. Copyright 2001-2006. Mayo Foundation for Medical Education and Research. Available at: http://www.wemove.org/dys/dys_seg.html

Hourigan LA. Eisenmenger Syndrome. emedicine. Last Updated: June 15, 2005. 9pp. Available at: http://www.emedicine.com/med/topic642.htm

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2008/04/05 00:00:00 GMT+0

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