$Unique_ID{BRK03697} $Pretitle{} $Title{Eisenmenger Syndrome} $Subject{Eisenmenger Syndrome Eisenmenger Complex Eisenmenger Disease Eisenmenger Reaction Pulmonary Hypertension, Primary} $Volume{} $Log{} Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 426: Eisenmenger Syndrome ** IMPORTANT ** It is possible the main title of the article (Eisenmenger Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Eisenmenger Complex Eisenmenger Disease Eisenmenger Reaction Information on the following disorder can be found in the Related Disorders section of this report: Pulmonary Hypertension, Primary General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Eisenmenger Syndrome is characterized by a large opening in the wall of the heart which separates the heart chambers (ventricular septal defect). The flow of blood between the heart and lungs meets with resistance (pulmonary vascular resistance, PVR). This resistance increases as the child matures, resulting in high lung (pulmonary) artery pressure. Blood that has lost its oxygen during circulation through the body needs to pass through the lungs to take up oxygen again. The high pulmonary artery pressure in patients with Eisenmenger Syndrome causes increasing difficulty breathing (dyspnea), insufficient levels of oxygen in the blood, and swelling (edema) of lung tissue. Some patients can do well until age 40 or 50 when their condition may begin to deteriorate. Symptoms Symptoms of Eisenmenger Syndrome are usually not detected during the first few months of life, although some infants may experience difficulty breathing while feeding. Onset of noticeable symptoms usually occurs between the ages of 5 to 15 years, when a slight blue discoloration of the skin (cyanosis) may occur, especially during exertion. Signs of this heart defect may be difficult to detect during infancy since there may not be an audible murmur caused by blood flow through the defective area of the heart. However, as the child grows older a heart murmur may become detectable and the skin may appear bluish (central cyanosis) because blood in the arteries does not carry a sufficient amount of oxygen. When an abnormal opening between the aorta and the pulmonary artery remains after birth (persistent ductus arteriosus), the feet will appear more bluish than the hands (differential cyanosis). Swelling due to proliferation of the soft tissue at the ends of fingers and toes (clubbing) may also occur. Patients with Eisenmenger Syndrome have an abnormally low blood pressure as a result of the reduced volume of blood pumped by the heart. Random contractions of the upper heart chamber causing an irregular, often rapid heart rate (atrial fibrillation), may also occur late in the course of the disorder. The blood pressure measured in the jugular vein is moderately raised. Medical examination usually reveals enlargement of the right ventricle and closure of the pulmonary valve. When a physician listens to the heart sounds of a patient with Eisenmenger Syndrome, signs of high blood pressure in the pulmonary arteries may be identified through the following clues: 1. A right atrial fourth sound reflecting enlargement (hypertrophy) of the right atrium. 2. A high-pitched clicking sound may occur during contraction of the heart (pulmonary ejection click), and a periodic murmur reflecting a widened pulmonary artery. 3. A loud pulmonary second sound may be transmitted to the tip (apex) of the heart caused by high blood pressure closing the valve forcibly. 4. A regurgitant murmur during relaxation (diastole) of the heart, down the left edge of the breast bone (sternum) may result from backflow of blood from the pulmonary arteries (pulmonary incompetence). 5. A heart murmur may occur throughout the period of contraction of the heart (pansystolic murmur) caused by incomplete closure of the tricuspid valve. (This valve normally permits blood flow from the right atrium to the right ventricle and not in the other direction.) Failure of the right heart ventricle to pump blood properly is characterized by breathlessness and water retention in body tissues which often results in swelling (edema). Expectoration of blood (hemoptysis) may occur in advanced stages of Eisenmenger Syndrome. Chest X-rays may show enlarged pulmonary arteries close to the lungs and insufficient levels of blood (ischemia) in vessels farther from the lungs. The right upper heart chamber (atrium) may become enlarged with time. Tissue death due to lack of blood and oxygen in the lungs (pulmonary infarction) is usually caused by an obstruction (embolus) in a pulmonary vessel. This may occur during late stages of the disorder. These changes may be detected by an electrocardiogram (ECG). Causes Eisenmenger Syndrome is a defective development of the fetal heart during pregnancy, possibly occurring during the first trimester. Scientists do not know the exact cause of this birth defect. Affected Population Eisenmenger Syndrome affects males and females in equal numbers. Related Disorders Symptoms of the following disorder may be similar to Eisenmenger Syndrome. Comparisons can be useful for a differential diagnosis: Primary Pulmonary Hypertension is a condition characterized by high blood pressure caused by obstruction of branches of the pulmonary artery between the lung and the heart. Symptoms of this condition include difficulty breathing (dyspnea) after strenuous exercise, feelings of fatigue and weakness. Therapies: Standard Treatment of Eisenmenger Syndrome is symptomatic and supportive. No specific treatment is available to lower the pulmonary vascular resistance that builds up between the heart and lungs. Once a left to right blood flow has been established, surgical repair of the opening between the right and left ventricles is usually not advisable because this might create symptoms similar to primary pulmonary hypertension. Anticlotting (anticoagulant) drugs should be avoided because of the risk of bleeding in the lungs. Therapies: Investigational Combined heart and lung transplantation has been performed on patients with Eisenmenger Syndrome with a 70% success rate. However, this procedure should be attempted only in the most serious cases. This disease entry is based upon medical information available through June 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Eisenmenger Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References ABNORMAL ARCHITECTURE OF THE VENTRICLES IN HEARTS WITH AN OVERRIDING AORTIC VALVE AND A PERIMEMBRANOUS VENTRICULAR SEPTAL DEFECT ("EISENMENGER VSD"): A. Oppenheimer-Dekker, et al.; International Journal Cardiol (November 1985: issue 9,3). Pp. 341-355. COMBINED HEART AND LUNG TRANSPLANTATION: S. W. Jamieson et al.; Lancet (May 21, 1983: issue 1 (8334)). Pp. 1130-1132. EISENMENGER'S SYNDROME AND PREGNANCY: S. Lieber, et al.; Acta Cardiol (Brux) (1985: issue 40,4). Pp. 421-424.