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Eisenmenger Syndrome

Complex Eisenmenger

Eisenmenger’s syndrome (ES) or Eisenmenger’s reaction is defined as a condition in which an untreated congenital heart defect leads to pulmonary hypertension with reversed or bi-directional shunting.


Presentation

The patients with congenital cardiac defects usually present with Eisenmenger syndrome before they reach puberty. The most common symptoms are:

Other pathologies associated with Eisenmenger syndrome occur mainly due to decrease in oxygenation of blood and increase in the viscosity of blood [6].

Common complications are:

Female patients of Eisenmenger syndrome are advised not to become pregnant because it may pose a threat to both the mother and the fetus. Although successful deliveries have been reported but mortality rate in such cases is estimated to be 30 to 60%. Common causes for maternal death are thromboembolism, hypovolemia, hemoptysis or preeclampsia either during delivery or during the first week after parturition [7].

Dyspnea
  • With 40% supplemental oxygen, subjects revealed lower dyspnea and lower limb fatigue compared to 6MWT without oxygen supplementation (p 0.001).[ncbi.nlm.nih.gov]
  • Her dyspnea improved, and she was characterized as World Health Organization functional class II on a subsequent clinical visit.[ncbi.nlm.nih.gov]
  • Dyspnea, back pain, edema, and cyanosis developed suddenly in a 23-year-old woman during the last trimester of her first pregnancy.[ncbi.nlm.nih.gov]
  • At admission, the two patients were on New York Heart Association class IV, diagnosed by progressive rest dyspnea. Bosentan was administered to patients 1 and 2 for 6 and 9 months, respectively (62.5 mg b.i.d. for 4 weeks, then 125 mg b.i.d.).[ncbi.nlm.nih.gov]
  • Ambrisentan was then administered for these side effects, but because severe dyspnea developed, the bosentan was started again at 62.5 mg. This resulted in immediate clinical improvement.[ncbi.nlm.nih.gov]
Exertional Dyspnea
  • Eighteen consecutive patients with ES and exertional dyspnea according to the World Health Organization functional class III or IV were prospectively recruited.[ncbi.nlm.nih.gov]
  • Clinical manifestations include exertional dyspnea, fatigue, lethargy, central cyanosis, chest pain, palpitations, atrial and ventricular arrhythmias.[orpha.net]
  • There were complaints of exertional dyspnea (NYHA Grade II), metabolic equivalent task (MET) score was 3. Physical examination revealed clubbing and peripheral cyanosis. Jugular venous pressure was not raised and there was no pedal edema.[apicareonline.com]
  • Although exercise limitation and exertional dyspnea may remain stable for years, poor exercise capacity identifies the patient at risk for hospitalization or death. 4 Fig. 1. Key stages in the development of Eisenmenger syndrome.[rc.rcjournal.com]
Atrial Septal Defect
  • A young woman with an atrial septal defect and the Eisenmenger syndrome has worsening symptoms and electrocardiographic changes of right ventricular hypertrophy five years later.[ncbi.nlm.nih.gov]
  • Administration of nitric oxide by means of inhalation during the labor of a woman with Eisenmenger's syndrome caused by an atrial septal defect resulted in improved oxygenation and initial pulmonary arterial pressure.[ncbi.nlm.nih.gov]
  • A 41-year-old man with atrial septal defect-Eisenmenger syndrome presented with progressively worsening breathlessness.[ncbi.nlm.nih.gov]
  • The atrial septal defect (ASD) is the most commonly diagnosed congenital defect in adults and has a prevalence of 7.5% of all congenital cardiac anomalies.[ncbi.nlm.nih.gov]
  • We report a case of a woman with an Eisenmenger atrial septal defect diagnosed during the last trimester of pregnancy. On presentation, she was critically ill and there was evidence of fetal distress.[ncbi.nlm.nih.gov]
Intraabdominal Hemorrhage
  • Delivery ultimately required cesarean section on ECMO support, with her hospital course complicated by intraabdominal hemorrhage and, later, recannulation with venoarterial ECMO for postoperative respiratory failure with decompensated pulmonary hypertension[ncbi.nlm.nih.gov]
Pulsatile Liver
  • A third heart sound as well as hepatosplenomegaly or a pulsatile liver occur with right heart failure. 4.2.[ncbi.nlm.nih.gov]
Heart Disease
  • Bosentan could be an effective therapy for pulmonary hypertension owing to congenital heart disease and chronic thromboembolic disease.[ncbi.nlm.nih.gov]
  • Eisenmenger syndrome (ES) is a life-threatening disease characterized by pulmonary hypertension and cyanosis in patients with congenital heart diseases.[ncbi.nlm.nih.gov]
  • Eisenmenger syndrome (ES) is the most advanced form of pulmonary arterial hypertension (PAH) related to congenital heart disease.[ncbi.nlm.nih.gov]
  • BNP is often elevated in patients with cyanotic congenital heart disease. The clinical utility of BNP in patients with cyanotic congenital heart disease and the ES has not been clearly delineated.[ncbi.nlm.nih.gov]
  • In this article, we report on the case of a 68-year-old woman with Eisenmenger syndrome related to congenital heart disease who was treated with inhaled iloprost and oral sildenafil for 2 years.[ncbi.nlm.nih.gov]
Heart Murmur
  • Although she had been noticed to have the enlarged heart and exertional shortness of breath to a slight degree, she had been apparently in good condition without any significant heart murmurs.[ncbi.nlm.nih.gov]
  • Heart murmurs may occur . EKG may show RVH and atrial arrhythmias (see figures 2, 3a, 3b, 5a, 5b, 14, 15a, 15b). Echocardiogram shows RV pressure overload, pulmonary high blood pressure, and the underlying heart defect.[rjmatthewsmd.com]
  • Signs of this condition include: abnormal heart rhythm (arrhythmia), bluish lips, fingers, toes, and skin (cyanosis), heart murmurs (an extra sound when listening to the heart), chest pain, episodes of coughing up blood, dizziness, fainting, fatigue,[secure.ssa.gov]
  • She had had a “benign” heart murmur since childhood. An echocardiogram taken before her transfer revealed a dilated right atrium and right ventricle and a normal left ventricle with normal function.[nejm.org]
Diastolic Murmur
  • murmur pulmonary insufficiency jugular venous distension loud pulmonary component of S2 sound clubbing of extremities peripheral edema Imaging Radiography indication performed to exclude lung diseases views chest findings right ventricular enlargement[medbullets.com]
  • Graham Steell murmur: a diastolic murmur audible along the left sternal border due to functional incompetence of the pulmonary valve in patients with pulmonary hypertension.[patient.info]
  • On cardiac examination a right ventricular lift, a loud, palpable single S2, a high-pitched diastolic murmur of pulmonary insufficiency, and a pansystolic murmur of tricuspid insufficiency may also be present.[phaonlineuniv.org]
Graham Steell Murmur
  • Graham Steell murmur: a diastolic murmur audible along the left sternal border due to functional incompetence of the pulmonary valve in patients with pulmonary hypertension.[patient.info]
  • In case of pulmonic regurgitation a decrescendo murmur (Graham Steell murmur) is audible early in diastole over the left upper parasternal border.[ncbi.nlm.nih.gov]

Workup

Eisenmenger’s syndrome is suspected if there is a history of cyanotic spells or dyspnea on exertion since childhood. The clinical examination of these patients may reveal:

The diagnosis of Eisenmenger’s syndrome is confirmed by specific laboratory investigations;

  • Complete blood count
  • Chest X-ray
  • Cardiac catheterization
  • Echocardiogram
  • Electrocardiogram
  • MRI of heart
P Pulmonale
  • ECG: almost always abnormal; shows features suggestive of right heart hypertrophy (with tall R wave in V1, deep S wave in V6, ST and T wave abnormalities, P pulmonale) as well as abnormalities associated with the underlying defect.[patient.info]
Myocardial Fibrosis
  • The aims of this study were to detect any myocardial fibrosis in ES and describe major clinical variables associated with the finding.[ncbi.nlm.nih.gov]
Prominent A-Wave
  • ECG of Eisenmenger syndrome Usually there is right ventricular hypertrophy with prominent P waves.[remedyland.com]
  • In tricuspid regurgitation, the jugular venous pressure may be elevated and shows a prominent "v" wave, Fig. ( 2 ). Elevated jugular venous pressure and prominent "v" wave in right heart failure and severe tricuspid regurgitation.[ncbi.nlm.nih.gov]
Biventricular Hypertrophy
  • Sometimes, these alterations are superimposed by ECG signs of the underlying cardiac defect (e.g. left or biventricular hypertrophy in univentricular hearts, transposition of the great arteries (TGA), truncus arteriosus).[ncbi.nlm.nih.gov]

Treatment

The management of the disease depends upon the severity of the defect and the condition of the patient. Medical therapy consists of drugs like calcium channel blockers, prostacyclin and endothelin receptor antagonist, to control pulmonary hypertension. In older children, oxygen therapy and phlebotomy are also considered as treatment options [8].

In case of irreversible damage to the pulmonary vasculature and development of severe pulmonary hypertension, the only treatment options are lung transplant or cardiopulmonary transplant.

In addition, the patients of Eisenmenger syndrome are also advised to avoid smoking and alcohol. Coughing in these individuals should be suppressed with antitussives to prevent the risk of pulmonary hemorrhage.

Vaccination against influenza and pneumonia are also recommended to these patients.

In female patients of reproductive age group, contraception by means of tubal ligation is advised because Eisenmenger syndrome may cause serious complications in pregnancy which may lead to maternal death in about 50% of cases.

Prognosis

The patient outlook depends upon the age at presentation. If the patient presents early before the development of irreversible lesions in the capillaries of lungs and severe pulmonary hypertension, the cardiac defect can be repaired through surgery.

The survival of the patient is also reduced if the cardiac lesion is complex or there is some co-existing medical condition like Down’s syndrome (trisomy 21) [9].

Pregnancy also poses a risk to the life of the patient. Mortality rate in pregnant females with Eisenmenger’s syndrome is more than 50%. The overall life expectancy of the patients with this disease is 20 to 50 years.

Some patients with a simpler cardiac lesion and mild symptoms may live up to the sixth decade of life. The five year survival rate of patients who have undergone cardiopulmonary or lung transplant is estimated to be 70 to 80% [10].

The terminal event in most of the patients is congestive heart failure, thromboembolism or massive hemoptysis.

Etiology

Eisenmenger’s syndrome results from the effects of long standing high pressure in the pulmonary circulation due to an underlying cardiac structural anomaly.

The defect in the heart causes the blood to flow from left to the right side. This abnormal shunting of blood will raise the pressure in the pulmonary vasculature to the point that the blood starts flowing from right to left side.

The most common defects which leads to the development of Eisenmenger’s syndrome are:

All of the above mentioned conditions result in the abnormal flow of blood to the pulmonary vessels and lead to increase in blood pressure in the lungs and cause endothelial injury in lung capillaries as well as insufficient oxygenation of blood.

Epidemiology

Although the cardiac defect is present at birth, patients with Eisenmenger’s syndrome usually come to clinical attention either before puberty or in early adulthood.

The incidence of this syndrome has fallen greatly in developed countries due to medical screening with echocardiography in early life.

In underdeveloped countries, it is still prevalent and the presentation of the patients is quite late when symptoms of overt pulmonary hypertension have developed.

Sex distribution
Age distribution

Pathophysiology

The human heart consists of four chambers. The left heart, consisting of left atrium and ventricle, is responsible for supplying oxygenated blood to the whole body whereas the right heart, consisting of the right atrium and ventricle, directs deoxygenated blood to the lungs for oxygenation. Since the left heart has to exert greater force to propel blood, it is more muscular than the right heart. Also the pressure in the left heart is higher than that of the right heart.

During fetal life, there is a communication between the pulmonary artery and the aortic arch - the ductus arteriosus, through which most of the blood from right ventricle bypasses the lungs. This channel closes within 12 to 24 hours after birth and seals completely in three weeks.

Eisenmenger’s syndrome develops when the normal anatomy of the heart is disturbed. It may either be due to any defect in the cardiac septa or due to patent ductus arteriosus. These anomalies result in shunting of blood from the high pressure left side of the heart to the low pressure right side of the heart. As the pressure rises, it causes damage to the capillaries of the lungs which get replaced with scar tissue.

This leads to a decrease in the useful volume of pulmonary vasculature and thus, decreased oxygenation of blood. Also the fibrosed vessels are less expansible. They contribute to the rise in the pulmonary blood pressure as well as hypertrophy of the right heart. Eventually, the pressure in the right circuit exceeds the pressure in the left heart causing right to left shunting of blood.

The deoxygenated blood from the right side flows to the left side and in turn to the whole body, thereby resulting in cyanosis [2]. The lack of oxygenation of blood leads to overproduction of red blood cells in the bone marrow to compensate the hypoxia resulting in polycythemia. Due to the hyperviscosity of blood, there is increased risk of thrombus formation in the blood vessels. The damaged blood vessels may also cause abnormal bleeding episodes in the form of hemoptysis [3].

Prevention

There are no guidelines for prevention of Eisenmenger’s syndrome.

Summary

Eisenmenger syndrome (ES) or Eisenmenger reaction is described as a process in which an untreated congenital cardiac defect like atrial or ventricular septal defect, patent ductus arteriosus or an atrioventricular canal defect, leads to abnormal shunting of blood from systemic to pulmonary circulation. This results in pulmonary hypertension and cyanosis in adolescence or early adult life [1].

The patients usually present with cyanosis, erythrocytosis, clubbing of fingers, syncope, arrhythmias, bleeding disorders and anemia. The condition was named after Doctor Victor Eisenmenger who first reported a patient in 1897 with cyanosis and dyspnea from infancy, who eventually died of cardiac failure and was found to have a large ventricular septal defect on autopsy.

Initially, the septal defect causes left to right shunting of blood but as the pressure within the pulmonary vasculature keep on raising it leads to pulmonary hypertension and the reversal of shunt to right to left. With the development of pulmonary hypertension, the condition becomes irreversible and inoperable. If diagnosed early, the defect can be repaired through surgery. The patient survival ranges from 20 to 50 years of age.

Patient Information

Eisenmenger’s syndrome is a condition related to a defect or hole in the heart which is present at the time of birth. This defect causes abnormal flow of blood between the heart chambers and thus the deoxygenated blood from the right side of the heart flows in the whole body.

The symptoms start in childhood or early adulthood. The patient has blue skin, chest pain, fatigue, dizziness, blurred vision, shortness of breath and fainting episodes.

If diagnosed early, the condition can be treated with drugs and surgical repair of the heart defect. If presented late, the only treatment option is lung transplant or a heart and lung transplant.

The overall survival of the patient is around 20 to 50 years.

References

Article

  1. Jensen AS, Iversen K, Vejlstrup NG, Hansen PB, Sondergaard L. [Eisenmenger syndrome]. Ugeskrift for laeger. Apr 6 2009;171(15):1270-1275.
  2. Wagenvoort CA, Wagenvoort N. Pathology of the Eisenmenger syndrome and primary pulmonary hypertension. Advances in cardiology. 1974;11(00):123-130.
  3. Sekiguchi M. Eisenmenger syndrome. Ryoikibetsu shokogun shirizu. 1996(13):11-14.
  4. Srinivas SK, Manjunath CN. Differential clubbing and cyanosis: classic signs of patent ductus arteriosus with Eisenmenger syndrome. Mayo Clinic proceedings. Sep 2013;88(9):e105-106.
  5. Van De Bruaene A, De Meester P, Voigt JU, et al. Worsening in oxygen saturation and exercise capacity predict adverse outcome in patients with Eisenmenger syndrome. International journal of cardiology. Sep 30 2013;168(2):1386-1392.
  6. Tomov L, Tomov I, Todorova M. Eisenmenger syndrome. Vutreshni bolesti. 1973;12(3):102-107.
  7. Russo R, Bortolotti U, Grella P, Terribile V, Schivazappa L. Eisenmenger syndrome and pregnancy. Minerva cardioangiologica. Oct 1980;28(10):711-715.
  8. Trojnarska O, Plaskota K. Therapeutic methods used in patients with Eisenmenger syndrome. Cardiology journal. 2009;16(6):500-506.
  9. Saha A, Balakrishnan KG, Jaiswal PK, et al. Prognosis for patients with Eisenmenger syndrome of various aetiology. International journal of cardiology. Jul 1994;45(3):199-207.
  10. Stoica SC, McNeil KD, Perreas K, et al. Heart-lung transplantation for Eisenmenger syndrome: early and long-term results. The Annals of thoracic surgery. Dec 2001;72(6):1887-1891.

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Last updated: 2018-06-22 02:57