1. 1
    Current Diagnosis

    • Examine blood pressures in arms and legs, pulse oximetry, mucous membranes and nail beds, respiratory rate, and peripheral pulses.

    • In addition to listening over the precordium for heart sounds and murmurs, palpate for thrills and evidence of right or left chamber enlargement.

    • Ancillary testing should include chest radiography, electrocardiography, and echocardiography.

    • Consult a cardiologist if the physical examination or ancillary tests suggest congenital heart disease.

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  2. 2
    Current Therapy

    • All congenital heart disease patients should have long-term follow- up for possible complications.

    •   Endocarditis prophylaxis is recommended for subjects with:

    •   Unrepaired cyanotic congenital heart disease

    •   Recently repaired congenital heart disease (<6 months after surgical or percutaneous repair)

    •   Repaired congenital heart disease with residual defects

    • Closure of defects with large left-to-right shunts (i.e., atrial septal defect, ventricular septal defect, atrioventricular canal, or patent ductus arteriosus) is recommended unless pulmonary vascular obstructive disease is far advanced.

    • Patients with bicuspid aortic valves should be monitored for aortic root dilatation.

    • Pregnancy should be avoided in women with cyanotic congenital heart disease because of high maternal and fetal morbidity and mortality.

    Congenital heart disease affects 0.4% to 0.9% of live births.

    Nowadays, most survive to adulthood because of improved diagnosis and treatment. Congenital cardiac defects can be categorized according to the presence or absence of cyanosis (due to right-to-left shunting) and the amount of pulmonary blood flow (Box 1).

    Box 1

    Categorization of Congenital Heart Disease

    Acyanotic Cardiac Defects

    Increased pulmonary blood flow

    •  Atrial septal defect

    •   Ventricular septal defect

    •   Atrioventricular canal defect

    •  Patent ductus arteriosus Normal pulmonary blood flow

    •   Aortic stenosis

    •   Pulmonic stenosis

    •   Aortic coarctation

    Cyanotic Cardiac Defects

    Normal pulmonary blood flow

    •   Ebstein’s anomaly

    Decreased pulmonary blood flow

    •   Tetralogy of Fallot

    •   Eisenmenger’s syndrome

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  3. 3
    Acyanotic Conditions

    Atrial Septal Defect

    Atrial septal defect (ASD) occurs in female patients two to three times as often as in male patients. Although most result from spontaneous genetic mutations, some are inherited.

    The physiologic consequences of ASD result from the shunting of blood from one atrium to the other; the direction and magnitude of shunting are determined by the size of the defect and the relative compliances of the ventricles. A small defect (<0.5 cm in diameter) is associated with a small shunt and no hemodynamic sequelae, whereas a sizable defect (>2 cm in diameter) usually is associated with a large shunt and substantial hemodynamic consequences. In most patients with ASD, the right ventricle is more compliant than the left; as a result, left atrial blood is shunted to the right atrium, causing increased pulmonary blood flow and dilatation of the atria, right ventricle, and pulmonary arteries (Figure 1). Eventually, if the right ventricle fails or its compliance declines, the magnitude of left-to-right shunting diminishes.

    FIGURE 1    Atrial septal defect. Blood from the pulmonary veins  enters the left atrium, after which some of it crosses the atrial septal defect into the right atrium and ventricle (longer arrow). Thus,  left-to-right shunting occurs. (Reprinted with permission from Brickner ME, Hillis LD, Lange RA: Congenital heart disease in adults. First of two parts. N Engl J Med 2000;342:256–263.)

    In a patient with a large ASD, a right ventricular or pulmonary arterial impulse may be palpable, and wide, fixed splitting of the second heart sound is present. A systolic ejection murmur, audible in the second left intercostal space, is caused by increased blood flow across the pulmonic valve; flow across the ASD itself does not produce a murmur.

    Because ASDs initially produce no symptoms or striking physical examination findings, they are often undetected for years. Small defects with minimal left-to-right shunting cause no symptoms or hemodynamic abnormalities, so they do not require closure. Even patients with moderate or large ASDs (characterized by a ratio of pulmonary to systemic blood flow of 1.5 or more) often have no symptoms until the third or fourth decade of life. Over the years, the increased blood volume flowing through the right heart chambers usually causes right ventricular dilatation and failure. Obstructive pulmonary vascular disease (Eisenmenger’s syndrome) occurs uncommonly in adults with ASD.

    The symptomatic patient with an ASD typically reports fatigue or dyspnea on exertion. Alternatively, the development of supraventricular tachyarrhythmias, right heart failure, paradoxical embolism, or recurrent pulmonary infections might prompt the patient to seek medical attention. Although an occasional patient with an unrepaired ASD survives to an advanced age, those with sizable shunts often die of right ventricular failure or arrhythmias in their 30s or 40s.

    Echocardiography can reveal atrial and right ventricular dilatation and identify the ASD’s location. The sensitivity of echocardiography may be enhanced by injecting microbubbles in solution into a peripheral vein, after which the movement of some of them across the defect into the left atrium can be visualized.

    An ASD with a pulmonary-to-systemic flow ratio of 1.5 or more should be closed (surgically or percutaneously) to prevent worsening right ventricular dysfunction. Prophylaxis against infective endocarditis is not recommended for patients with ASD (repaired or unrepaired) unless a concomitant valvular abnormality is present.

    Ventricular Septal Defect

    Ventricular septal defect (VSD) is the most common congenital cardiac abnormality, with similar incidence in boys and girls. Approximately 25% to 40% of them close spontaneously by 2 years of age.

    The physiologic consequences of a VSD are determined by the size of the defect and the relative resistances in the systemic and pulmonary vascular beds. A small defect causes little or no functional disturbance, because pulmonary blood flow is only minimally increased. In contrast, a large defect causes substantial left-to-right shunting, because systemic vascular resistance exceeds pulmonary vascular resistance (Figure 2). Over time, however, the pulmonary vascular resistance usually increases, and the magnitude of left-to- right shunting declines. Eventually, the pulmonary vascular resistance equals or exceeds the systemic resistance; the shunting of blood from left to right ceases; and right-to-left shunting begins (e.g., Eisenmenger’s physiology).

    FIGURE 2    Ventricular septal defect. When the left ventricle  contracts, it ejects some blood into the aorta and some across the ventricular septal defect into the right ventricle and pulmonary artery (arrow), resulting in left-to-right shunting. (Reprinted with permission from Brickner ME, Hillis LD, Lange RA: Congenital heart disease in adults. First of two parts. N Engl J Med 2000;342:256–263.)

    A small, muscular VSD can produce a high-frequency systolic ejection murmur that terminates before the end of systole (when the defect is occluded by contracting heart muscle). With a moderate or large VSD and substantial left-to-right shunting, a holosystolic murmur, loudest at the left sternal border, is audible and is usually accompanied by a palpable thrill. If pulmonary hypertension develops, the holosystolic murmur and thrill diminish in magnitude and eventually disappear as flow through the defect decreases.

    Echocardiography is usually performed to confirm the presence and location of the VSD and to delineate the magnitude and direction of shunting. With catheterization, one can determine the magnitude of shunting and the pulmonary vascular resistance.

    The natural history of VSD depends on the size of the defect and the pulmonary vascular resistance. Adults with small defects and normal pulmonary arterial pressure are generally asymptomatic, and pulmonary vascular disease is unlikely to develop. In contrast, patients with large defects who survive to adulthood usually have left ventricular failure or pulmonary hypertension (or both) with associated right ventricular failure.

    Closure of VSDs (surgically or percutaneously) is recommended if the pulmonary vascular obstructive disease is not severe. Prophylaxis against infective endocarditis is recommended for patients with unrepaired VSD and those with a residual shunt despite surgical or percutaneous closure.

    Atrioventricular Canal Defect

    The endocardial cushions normally fuse to form the tricuspid and mitral valves as well as the atrial and ventricular septa.

    Atrioventricular (AV) canal defects are caused by incomplete fusion of the endocardial cushions during embryonic development. They are the most common congenital cardiac abnormality in patients with Down syndrome. Such cushion defects include a spectrum of abnormalities, ranging from ASD with a cleft anterior mitral valve leaflet to a common AV canal defect in which a single AV valve in association with a large ASD and VSD is present.

    A common AV canal defect permits substantial left-to-right shunting at both the atrial and ventricular levels, which leads to excessive pulmonary blood flow and resultant pulmonary congestion within months of birth. Eventually, the excessive pulmonary blood flow leads to irreversible pulmonary vascular obstruction (e.g., Eisenmenger’s physiology).

    In the patient with an AV canal defect and left-to-right intracardiac shunting, the physical examination reveals a loud holosystolic murmur audible throughout the precordium. As pulmonary vascular resistance increases, the holosystolic murmur diminishes in intensity and duration, eventually disappearing as flow through the defect decreases.

    AV canal defects require surgical repair if the magnitude of pulmonary vascular obstructive disease is not prohibitive. Although such patients might initially benefit from medical treatment with diuretics and afterload reduction, the onset of heart failure symptoms is generally the point at which surgery is considered. Prophylaxis against infective endocarditis is recommended for patients with repaired and unrepaired AV canal defects.

    Patent Ductus Arteriosus

    The ductus arteriosus connects the descending aorta (just distal to the left subclavian artery) and the left pulmonary artery. In the fetus, it permits pulmonary arterial blood to bypass the unexpanded lungs and to enter the descending aorta for oxygenation in the placenta.

    Although it normally closes spontaneously soon after birth, it fails to do so in some infants, so that continuous flow from the aorta to the pulmonary artery (i.e., left-to-right shunting) occurs (Figure 3). The incidence of patent ductus arteriosus (PDA) is increased in pregnancies complicated by persistent perinatal hypoxemia or maternal rubella infection as well as among infants born prematurely or at high altitude.

    FIGURE 3    Patent ductus arteriosus. Some of the blood from the  aorta crosses the ductus arteriosus into the pulmonary artery (arrows), with resultant left-to-right shunting. (Reprinted with permission from Brickner ME, Hillis LD, Lange RA: Congenital heart disease in adults. First of two parts. N Engl J Med 2000;342:256–263.)

    A patient with PDA and a moderate or large shunt has bounding peripheral arterial pulses and a widened pulse pressure. A continuous “machinery” murmur, audible in the second left intercostal space, begins shortly after the first heart sound, peaks in intensity at or immediately after the second heart sound (thereby obscuring it), and diminishes in intensity during diastole. If pulmonary vascular obstruction and hypertension develop, the murmur decreases in duration and intensity and eventually disappears.

    With echocardiography, the PDA can usually be visualized, and Doppler studies demonstrate continuous flow in the pulmonary trunk. Catheterization and angiography allow one to quantify the magnitude of shunting and the pulmonary vascular resistance and to visualize the PDA.

    The subject with a small PDA has no symptoms attributable to it and a normal life expectancy. However, it is associated with an elevated risk of infective endarteritis. A PDA of moderate size might cause no symptoms during infancy; during childhood or adulthood, fatigue, dyspnea, or palpitations can appear. Additionally, the PDA can become aneurysmal and calcified, with subsequent rupture.

    Larger shunts can precipitate left ventricular failure. Eventually, pulmonary vascular obstruction can develop; when the pulmonary vascular resistance equals or exceeds the systemic vascular resistance, the direction of shunting reverses.

    One third of patients with an unrepaired moderate or large PDA die of heart failure, pulmonary hypertension, or endarteritis by 40 years of age, and two thirds die by 60 years of age. Because of the risk of endarteritis associated with unrepaired PDA (about 0.45% annually after the second decade of life) and the safety of surgical ligation (generally accomplished without cardiopulmonary bypass) or percutaneous closure, even a small PDA should be ligated surgically or occluded percutaneously. Once severe pulmonary vascular obstructive disease develops, ligation or closure is contraindicated.

    Aortic Stenosis

    A bicuspid aortic valve is found in 2% to 3% of the population and is four times more common in male than female patients. The bicuspid valve has a single fused commissure and an eccentrically oriented orifice. Although the deformed valve is not typically stenotic at birth, it is subjected to abnormal hemodynamic stress, which can lead to leaflet thickening and calcification. In many patients, an abnormality of the ascending aortic media is present, predisposing the patient to aortic root dilatation. Twenty percent of patients with a bicuspid aortic valve have an associated cardiovascular abnormality, such as PDA or aortic coarctation.

    In patients with severe aortic stenosis (AS), the carotid upstroke is usually delayed and diminished. The aortic component of the second heart sound is diminished or absent. A systolic crescendo– decrescendo murmur is audible over the aortic area and often radiates to the neck. As the magnitude of AS worsens, the murmur peaks progressively later in systole.

    In most patients, echocardiography with Doppler flow permits an assessment of the severity of AS and of left ventricular systolic function. Cardiac catheterization is performed to assess the severity of AS and to determine if concomitant coronary artery disease is present.

    The symptoms of AS are angina pectoris, syncope or near syncope, and those of heart failure (dyspnea). Asymptomatic adults with AS have a normal life expectancy. Once symptoms appear, survival is limited: The median survival is 5 years once angina develops, 3 years once syncope occurs, and 2 years once symptoms of heart failure appear. Therefore, patients with symptomatic AS should undergo valve replacement.

    Pulmonic Stenosis

    Pulmonic stenosis (PS) is the second most common congenital cardiac malformation (after VSD). Although typically an isolated abnormality, it can occur in association with VSD.

    The patient with PS is usually asymptomatic, and the condition is identified by auscultation of a loud systolic murmur. When it is severe, dyspnea on exertion or fatigue can occur; less often, patients have retrosternal chest pain or syncope with exertion. Eventually, right ventricular failure can develop, with resultant peripheral edema and abdominal swelling.

    In patients with moderate or severe PS, the second heart sound is widely split, with its pulmonic component soft and delayed. A crescendo-decrescendo systolic murmur that increases in intensity with inspiration is audible along the left sternal border. If the valve is pliable, an ejection click often precedes the murmur. On echocardiography, right ventricular hypertrophy is evident; the severity of PS can usually be assessed with measurement of Doppler flow.

    Adults with mild PS are usually asymptomatic and do not require a corrective procedure. In contrast, patients with moderate or severe PS should undergo percutaneous balloon dilatation.

    Aortic Coarctation

    Aortic coarctation typically consists of a diaphragm-like ridge extending into the aortic lumen just distal to the left subclavian artery (Figure 4), resulting in an elevated arterial pressure in both arms. Less commonly, the coarctation is located immediately proximal to the left subclavian artery, in which case a difference in arterial pressure is noted between the arms. Extensive collateral arterial circulation to the lower body through the internal thoracic, intercostal, subclavian, and scapular arteries often develops in patients with aortic coarctation.

    The condition, which is two to five times as common in male as in female patients, can occur in conjunction with gonadal dysgenesis (e.g., Turner’s syndrome), bicuspid aortic valve, VSD, or PDA.

    FIGURE 4    Coarctation of the aorta. Coarctation causes obstruction  to blood flow in the descending thoracic aorta; the lower body is perfused by collateral vessels from the axillary and internal thoracic arteries through the intercostal arteries. (Reprinted with permission from Brickner ME, Hillis LD, Lange RA: Congenital heart disease in adults. First of two parts. N Engl J Med 2000;342:256–263.)

    On physical examination, the arterial pressure is higher in the arms than in the legs, and the femoral arterial pulses are weak and delayed. A harsh systolic ejection murmur may be audible along the left sternal border and in the back, particularly over the coarctation. A systolic murmur, caused by flow through collateral vessels, may be heard in the back.

    On chest radiography, increased collateral flow through the intercostal arteries causes notching of the posterior third through eighth ribs. The coarctation may be visible as an indentation of the aorta, and one may see prestenotic and poststenotic aortic dilatation, producing the “reversed E” or “3” sign. Computed tomography, magnetic resonance imaging, and contrast aortography provide precise anatomic delineation of the coarctation’s location and length.

    Most adults with aortic coarctation are asymptomatic. When symptoms are present, they are usually those of hypertension: headache, epistaxis, dizziness, and palpitations. Complications of aortic coarctation include hypertension, left ventricular failure, aortic dissection, premature coronary artery disease, infective endocarditis, and cerebrovascular accidents (due to rupture of an intracerebral aneurysm). Two thirds of patients older than 40 years who have uncorrected aortic coarctation have symptoms of heart failure. Three fourths die by the age of 50 years and 90% by the age of 60 years.

    Surgical repair or intraluminal stenting should be considered for patients with a transcoarctation pressure gradient greater than 30 mm Hg, with the choice of procedure influenced by the age of the patient, anatomic considerations of the coarctation, and the presence of concomitant cardiac abnormalities. Persistent hypertension is common despite surgical or percutaneous intervention, and recurrent coarctation or aneurysm formation at the repair site may occur.

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  4. 4
    Cyanotic Conditions

    Ebstein’s Anomaly

    With Ebstein’s anomaly, the tricuspid valve’s septal leaflet and often its posterior leaflet are displaced into the right ventricle, and the anterior leaflet is usually malformed and abnormally attached or adherent to the right ventricular free wall. As a result, a portion of the right ventricle is atrialized, in that it is located on the atrial side of the tricuspid valve, and the remaining functional right ventricle is small (Figure 5). The tricuspid valve is usually regurgitant, but it may be stenotic. Eighty percent of patients with Ebstein’s anomaly have an interatrial communication (atrial septal defect or patent foramen ovale) through which right-to-left shunting of blood can occur.

    FIGURE 5    Ebstein’s anomaly. With Ebstein’s anomaly, the  tricuspid valve is displaced apically, a portion of the right ventricle is  atrialized (i.e., located on the atrial side of the tricuspid valve), and the functional right ventricle is small. (Reprinted with permission from Brickner ME, Hillis LD, Lange RA: Congenital heart disease in adults. Second of two parts. N Engl J Med 2000;342:334–342.)

    The severity of the hemodynamic derangements in patients with Ebstein’s anomaly depends on the magnitude of displacement and the functional status of the tricuspid valve leaflets. On the one extreme, patients with mild apical displacement of the tricuspid valve leaflets have normal valvular function; on the other extreme, those with severe leaflet displacement or abnormal anterior leaflet attachment, with resultant valvular dysfunction, have an elevated right atrial pressure and right-to-left interatrial shunting.

    The clinical presentation of subjects with Ebstein’s anomaly ranges from severe right heart failure in the neonate to the absence of symptoms in the adult in whom it is discovered incidentally. Older children with Ebstein’s anomaly often come to medical attention because of an incidental murmur, whereas adolescents and adults may be identified because of a supraventricular arrhythmia.

    On physical examination, the severity of cyanosis depends on the magnitude of right-to-left shunting. The first and second heart sounds are widely split, and a third or fourth heart sound is often present, resulting in triple or even quadruple heart sounds. A systolic murmur caused by tricuspid regurgitation is usually present at the left lower sternal border.

    Echocardiography is used to assess the presence and magnitude of right atrial dilatation, anatomic displacement and distortion of the tricuspid valve leaflets, and the severity of tricuspid regurgitation or stenosis.

    Prophylaxis against infective endocarditis is recommended. Patients with symptomatic right heart failure should receive diuretics.

    Tricuspid valve repair or replacement in conjunction with closure of the interatrial communication is recommended for older patients with severe symptoms despite medical therapy and those with less severe symptoms who have cardiac enlargement.

    Tetralogy of Fallot

    Tetralogy of Fallot is characterized by a large VSD, an aorta that overrides both ventricles, obstruction to right ventricular outflow (subvalvular, valvular, supravalvular, or in the pulmonary arterial branches), and right ventricular hypertrophy (Figure 6).

    FIGURE 6    Tetralogy of Fallot. Tetralogy of Fallot is characterized by  a large ventricular septal defect, obstruction of the right  ventricular outflow tract, right ventricular hypertrophy, and an aorta that  overrides the left and right ventricles. With right ventricular outflow tract obstruction, blood is shunted through the ventricular septal defect from right to left (arrow). (Reprinted with permission from Brickner ME, Hillis LD, Lange RA: Congenital heart disease in adults. Second of two parts. N Engl J Med 2000;342:334–342.)

    Most patients with tetralogy of Fallot have substantial right-to-left shunting through the large VSD because of increased resistance to flow in the right ventricular outflow tract; the magnitude of right ventricular outflow tract obstruction determines the magnitude of shunting. Because the resistance to flow across the right ventricular outflow tract is relatively fixed, changes in systemic vascular resistance affect the magnitude of right-to-left shunting: A decrease in systemic vascular resistance increases right-to-left shunting, whereas an increase in systemic resistance decreases it.

    Patients with tetralogy of Fallot typically have cyanosis from birth or beginning in the first year of life. In childhood, they might have sudden hypoxic spells, characterized by tachypnea and hyperpnea, followed by worsening cyanosis and, in some cases, loss of consciousness, seizures, cerebrovascular accidents, and even death. Such spells do not occur in adolescents or adults. Without surgical intervention, most patients die in childhood.

    On physical examination, patients with tetralogy of Fallot have cyanosis and digital clubbing. A right ventricular lift or tap is palpable. The second heart sound is single, because its pulmonic component is inaudible. A systolic ejection murmur, audible along the left sternal border, is caused by the obstruction to right ventricular outflow. The intensity and duration of the murmur are inversely related to the severity of right ventricular outflow obstruction; a soft, short murmur suggests that severe obstruction is present.

    Laboratory examination reveals arterial oxygen desaturation and compensatory erythrocytosis. Echocardiography can be used to establish the diagnosis and to assess the location and severity of right ventricular outflow tract obstruction.

    Complete surgical repair (closure of the VSD and relief of right ventricular outflow tract obstruction) is recommended to relieve symptoms and to improve survival; it should be performed when patients are very young. Those with tetralogy of Fallot (repaired or unrepaired) are at risk for endocarditis and therefore should receive antibiotic prophylaxis before dental or elective surgical procedures.

    Patients with repaired tetralogy of Fallot require careful follow-up, because they can subsequently develop atrial or ventricular arrhythmias, pulmonic regurgitation, right ventricular dysfunction, or recurrent obstruction of the right ventricular outflow tract.

    Eisenmenger’s Syndrome

    With substantial left-to-right shunting, the pulmonary vasculature is exposed to increased blood flow under increased pressure, often resulting in pulmonary vascular obstructive disease. As the pulmonary vascular resistance approaches or exceeds systemic resistance, the shunt is reversed (right-to-left shunting develops), and cyanosis appears (Figure 7).

    FIGURE 7    Eisenmenger’s syndrome. In response to substantial  left- to-right shunting, morphologic alterations occur in the small pulmonary arteries and arterioles (inset), leading to pulmonary hypertension and the resultant reversal of the intracardiac shunt (arrow). In the small pulmonary arteries and arterioles, medial hypertrophy, intimal cellular proliferation, and fibrosis lead to narrowing or closure of the vessel lumina. With sustained pulmonary hypertension, extensive atherosclerosis and calcification often develop in the large pulmonary arteries. (Reprinted with permission from Brickner ME, Hillis LD, Lange RA: Congenital heart disease in adults. Second of two parts. N Engl J Med 2000;342:334–42.)

    Most patients with Eisenmenger’s syndrome have impaired exercise tolerance and exertional dyspnea. Palpitations are common and most often result from atrial fibrillation or flutter. As erythrocytosis (due to arterial desaturation) develops, symptoms of hyperviscosity (visual disturbances, fatigue, headache, dizziness, and paresthesias) can appear. Patients with Eisenmenger’s syndrome can experience hemoptysis, bleeding complications, cerebrovascular accidents, brain abscess, syncope, and sudden death.

    Eisenmenger’s syndrome patients typically have digital clubbing and cyanosis, a right parasternal heave (due to right ventricular hypertrophy), and a prominent pulmonic component of the second heart sound. The murmur caused by a VSD, PDA, or ASD disappears when Eisenmenger’s syndrome develops.

    The chest x-ray reveals normal heart size, prominent central pulmonary arteries, and diminished vascular markings (pruning) of the peripheral vessels. On transthoracic echocardiography, evidence of right ventricular pressure overload and pulmonary hypertension is present. The underlying cardiac defect can usually be visualized, although shunting across the defect may be difficult to demonstrate by Doppler because of the low jet velocity.

    Even though patients with Eisenmenger’s syndrome have severe pulmonary hypertension, they have a favorable long-term survival: 80% at 10 years after diagnosis, 77% at 15 years, and 42% at 25 years. Death is usually sudden, presumably caused by arrhythmias, but some patients die of heart failure, hemoptysis, brain abscess, or stroke.

    Phlebotomy with isovolumic replacement should be performed in patients with moderate or severe symptoms of hyperviscosity; it should not be performed in asymptomatic or mildly symptomatic patients regardless of the hematocrit. Repeated phlebotomy can result in iron deficiency, which can worsen the symptoms of hyperviscosity, because iron-deficient erythrocytes are less deformable than iron- replete ones. Anticoagulants and antiplatelet agents should be avoided, because they exacerbate the hemorrhagic diathesis.

    Patients with Eisenmenger’s syndrome should avoid intravascular volume depletion, high altitude, and the use of systemic vasodilators. Because of high maternal and fetal morbidity and mortality, pregnancy should be avoided. Patients with Eisenmenger’s syndrome who are undergoing noncardiac surgery require meticulous management of anesthesia, with attention to maintenance of systemic vascular resistance, minimization of blood loss and intravascular volume depletion, and prevention of iatrogenic paradoxical embolization. In preparation for noncardiac surgery, prophylactic phlebotomy (usually of 1 to 2 units of blood, with isovolumic replacement) is recommended for patients with a hematocrit greater than 65% to reduce the likelihood of perioperative hemorrhagic and thrombotic complications.

    Lung transplantation with repair of the cardiac defect or combined heart–lung transplantation are options for patients with Eisenmenger’s syndrome who are deemed to have a poor prognosis (as reflected by the presence of syncope, refractory right heart failure, a high New York Heart Association [NYHA] functional class, or severe hypoxemia). Because of the somewhat limited success of transplantation and the reasonably good survival among patients treated medically, careful selection of patients for transplantation is imperative. Although pulmonary vasodilators improve exercise capacity, they have not been proved to improve survival.

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  5. 5

    Brickner M.E., Hillis L.D., Lange R.A. Congenital heart disease in adults. First of two parts. N Engl J Med. 2000;342:256–263.

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    Deanfield J., Thaulow E., Warnes C., et al. Management of grown up congenital heart disease. Eur Heart J. 2003;24:1035– 1084.

    Lange R.A., Hillis L.D., Vongpatanasin W.P., Brickner M.E. The Eisenmenger syndrome in adults. Ann Int Med. 1998;128:745– 755.

    Marelli A.J., Mackie A.S., Ionescu-Ittu R., et al. Congenital heart disease in the general population: Changing prevalence and age distribution. Circulation. 2007;115:163–172.

    Warnes C.S., Williams R.G., Bashore T.M., et al. ACC/AHA 2008 Guidelines for the management of adults with congenital heart disease: Executive summary. A report of the American

    College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines for the Management of Adults With Congenital Heart Disease). Circulation. 2008;118:2395–2451.

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