Survival of patients with congenital heart disease (CHD) has steadily improved over the past 4 decades since reparative surgery has become available in most high income countries. Since the 1970s, more than 80% of patients have survived into adult life. The 32nd Bethesda Conference report (Bethesda Report) in 2000 contains an estimate that approximately 800,000 adults in the United States have CHD. With current surgical mortality less than 10%, it is expected that in the next decade almost 1 in 150 young adults will have some form of CHD. ^,

The level of development of health care in a particular environment will strongly influence the prevalence and profile of adult congenital heart patients. In countries with underdeveloped healthcare systems, fewer CHD patients will survive to adulthood, and a preponderance of these will have unrepaired anomalies. Consequently, many of these patients will have advanced sequelae consistent with the natural history of the particular anomaly. In this chapter, we describe CHD as it presents in environments with state-of-the-art pediatric cardiac management but have also included descriptions of the management of common late presenting defects in countries that are less well developed. With economic growth, health care in many low and middle income countries (LMICs) is improving, and better access to health care is allowing more unrepaired adult CHD survivors to present for treatment. In this chapter we have endeavored to include information relevant to the treatment of this growing group of adult congenital heart disease patients.

Primary CHD in the adult refers to previously untreated anomalies. In high income countries these lesions tend to be more benign, allowing survival into adulthood without intervention and usually without a major effect on the success of the later repair. Typical lesions include atrial septal defects and restrictive ventricular septal defects or mild valve lesions that develop later significant stenosis or regurgitation. Occasionally the complication of endocarditis on the congenital defect will occur and is the indication for either urgent or elective surgery.

In high income countries, adults with primary CHD do not make up the bulk of the ACHD cohort, but this may not be the case in the LMICs, where adults more commonly present with primary disease, such as those mentioned previously and other lesions that have been managed with medical treatment or observation only. Often these lesions are still operable with good outcomes and improved quality of life, for instance in subaortic ventricular septal defect with prolapsing aortic cusp and ruptured sinus of Valsalva aneurysm. Unfortunately, in countries where there has been limited access to heart surgery for children, the adult may present with important sequelae as a result of prolonged cyanosis (in tetralogy of Fallot for example) or with pulmonary vascular hypertensive disease as a result of unrestrictive left-to-right shunting through a large ventricular septal defect. These late sequelae will have a major effect on the appropriate management and the long-term outcome of these patients and may in some cases mean they are inoperable (See specific lesions in this Chapter).

Occasionally, adult patients have been identified who were diagnosed with complex congenital heart disease in infancy; however, because their pathophysiology was not life threatening and their structural heart disease was so complex as to be thought inoperable, they have been managed without surgical correction into adulthood. Some may not have had geographical or economic access to intervention. Operation may offer them a better quality of life and survival so long as their pulmonary vascular resistance has remained low and cardiac function is reasonable. An example of this is a patient with pulmonary atresia with aortopulmonary collaterals and with mild cyanosis who may be a candidate for unifocalization of collaterals and complete repair.

Secondary CHD refers to the patients who have had a previous intervention for CHD. This is more common in high income countries and is a consequence that signifies the success of pediatric congenital heart surgery and medical management in the last 50 years. It covers the entire spectrum of congenital anomalies. Categorization of these adult survivors is made more difficult due to the additional impact of the surgery on the initial diagnosis. In each future subsection the patients will be grouped not only under diagnosis but also with reference to which of several corrective procedures they may have had.

Cardiac conditions are the commonest cause of morbidity and mortality in pregnant women worldwide. Ideally, women with CHD should receive counseling by an adult CHD expert before becoming pregnant. It is useful to have a full assessment including functional status, ventricular contractility, and severity of congenital lesions to allow risk to be estimated. Both fetal and maternal risks should be discussed with the patient.

If functional status and systemic ventricular function are good, the outcome of pregnancy is favorable in most women with CHD. However, even in women with well-compensated cardiac status, specific risks are present and specialist care by a multidisciplinary pregnancy heart team is advisable. In those with intracardiac shunts, there is a risk of paradoxical embolism from air entry into intravenous lines, or of a clot from deep venous thrombosis (DVT) especially with any degree of immobilization (for example, long distance air travel). In those with mechanical heart valves, their vitamin K therapy will need to be stopped prior to pregnancy, as these drugs are teratogenic, especially in high doses, and other agents often need to be used Fig. 54.4 The European Society of Cardiology (ESC) Guidelines on Pregnancy details the week-by-week care and adjustments required for safe anticoagulation of these pregnant mothers.

Flowchart on anticoagulation in mechanical valves and high-dose VKA a weeks 6-12 b monitoring LMWH:-starting dose for LMWH is 1 mg/kg body weight for enoxaparin and 100 IU/kg for dalteparin, twice daily subcutaneously;-in-hospital daily anti-Xa levels until target, then weekly (I);-target anti-Xa levels: 1.0–1.2 U/mL (mitral and right sided valves) or 0.8–1.2 U/mL (aortic valves) 46 hours postdose (I);-predose anti-Xa levels >0.6 U/mL (IIb). aPTT , activated partial thromboplastic time; INR , international normalized ratio; IV intravenous; LMWH , low molecular weight heparin; LVEF , left ventricular ejection fraction; UFH , unfractionated heparin; VKA , vitamin K antagonist.

Reproduced from Regitz-Zagrosek V, Roos-Hesselink JW, Bauersachs J, et al. 2018 ESC Guidelines for the management of cardiovascular diseases during pregnancy. Eur Heart J. 2018;39:3165-3241.

The 2020 ESC Guidelines lists the groups of adult CHD patients most at risk during pregnancy, dividing them into significantly increased risk (cardiac event rate of 19%–27%) and extremely high risk (event rate 40%–100%) ( Table 54.4 ),) Pulmonary arterial hypertension is the highest risk lesion with ongoing danger to the mother extending into the postnatal period. Cyanosis is also of particular importance, with the chances of a fetus surviving a pregnancy if the mother has saturations of 85% or less being only 12%.

These women should be managed and delivered in specialized centers with expertise in adult CHD, obstetrics, anesthesiology, and neonatology. Vaginal delivery is preferable for most women with CHD; cesarean section and delivery is recommended for obstetric reasons and for women fully anticoagulated with warfarin at the time of delivery, because of the risk of fetal intracranial hemorrhage. Although pregnancy is not contraindicated in women with repaired congenital anomalies, increased complications may occur. An excess of miscarriages, preterm delivery, and maternal hypertension is found after successful coarctation repair and repair of congenital aortic stenosis.

Impact of maternal medications on the fetus should always be considered and in this context certain cardiac medications are contraindicated during pregnancy, including angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARB) which cause congenital and renal disorders in the fetus. Warfarin should be used only after full discussion with the patient about its risks during pregnancy ( Fig. 54.4 ). ^, Endocarditis is a recognized risk for maternal morbidity; however, endocarditis prophylaxis at the time of delivery is not universally recommended. Some believe that risk of bacteremia is low; others routinely administer antibiotics. ^, Intravenous amoxicillin and gentamicin should be considered for women with high-risk anatomy or previous history of endocarditis.

Contraception should be discussed in young women as soon as it is recognized as relevant, and with specific attention to effectiveness and safety. The combined oral contraceptive is highly efficacious but best avoided in patients with a preexisting prothrombotic risk (cyanosis, Fontan, mechanical valves, prior thrombotic events, pulmonary hypertension). Progesterone-only contraceptives do not pose such a high thrombotic risk, and newer preparations available for oral or implantable administration have a high efficacy (over 95%). The risk of endocarditis after implantation is probably low; however, there is a risk of vasovagal reactions (5%) with insertion and removal, so there are some adults for whom these procedures are best performed with specialist team support.

Assisted reproduction has added risks beyond those of pregnancy alone and consultation with an adult CHD specialist should occur before treatment. There is a risk of ovarian hyperstimulation syndrome, associated with thrombosis and fluid retention, which can be managed in a specialist center with careful planning. Transferring a single rather than multiple embryos is strongly advised in the cardiac patient due to the significantly increased risk with a multiple pregnancy.

Cardiac surgery during pregnancy is rarely necessary. About 1% to 4% of pregnancies are complicated by cardiac disease. Where medical management is not enough an interventional procedure, rather than operation, is preferable. The decisions are difficult and require the disciplines of adult congenital cardiology and cardiac surgery, intensive care, and obstetrics to meet and discuss the available options, which may be complicated by the maternal-fetal conflict of interest, nonelective presentation for surgery, and vulnerability during the postpartum period.

Mortality risk of cardiac surgery is high, 2% to 9% for the mother and 20% to 30% for the fetus. On the other hand, the 2% to 9% maternal mortality risk is probably onefold to twofold higher than the risk of the same cardiac operation in a nonpregnant woman of the same age. Maternal risk will vary depending on the cardiac lesion. From a literature review of 161 cardiac operations during pregnancy, the greatest maternal risk was found to be associated with cardiac operations for pulmonary embolism (22%) and aortic dissection (22%), followed by operations for either native (9%) or prosthetic valve disease (9%). The underlying etiology of the embolism, dissection, and valve disease was not given; however, from the age range of the pregnant women, it is reasonable to assume, at least for the native and prosthetic valve categories, that congenital anomalies represent the underlying cause for a substantial number of the cases. In this same review, a separate category of “congenital anomalies” accounted for 11 (7%) of the 161 cases. Of these 11, 6 required cardiopulmonary bypass (CPB) to accomplish the repair. None of these 11 patients died. The other common underlying etiology of heart disease in pregnant women requiring cardiac surgery is likely rheumatic disease.

Other risk factors for death in pregnant women undergoing cardiac surgery include moderate or severe obstruction of the aortic or mitral valve, left ventricular (LV) ejection fraction below 40%, higher preoperative New York Heart Association (NYHA) functional class, and a preoperative history of stroke from arrhythmias. ^, Risk factors for fetal death are shown in Table 54.5 .

If surgery is being considered during the third trimester, controlled delivery before the mother’s cardiac operation should be considered in order to minimize risk to the fetus. Fetal bradycardia is a common complication; thus, fetal heart rate monitoring, and ideally fetal echocardiographic monitoring, should be performed. CPB adjustments are important to maximize uterine circulation and maintain fetal heart rate. These adjustments include increasing perfusion flow rates, maintaining high perfusion pressure (60 mmHg), avoiding hypothermia, maintaining high hematocrit, avoiding vasoconstrictive agents, and using pulsatile perfusion. Uterine contractions occur in response to CPB, possibly as a response to the dilution of progesterone, which stabilizes the uterus; thus, tocolytic pharmacologic therapy may be beneficial during CPB.

Irreversible pulmonary arterial hypertension (PAH) associated with CHD usually results from anomalies that allow longstanding left-to-right shunts. All such shunts cause PAH from birth onward; however, initially the PAH is flow related, meaning pulmonary blood flow ( Q ˙ p ) is increased and pulmonary vascular resistance (Rp) is low. Over time, PAH may evolve from flow related to resistance related, meaning that Rp becomes elevated and Q ˙ p decreases. Flow-related PAH is reversible after eliminating the shunt with surgery or other intervention. Resistance-related PAH is generally irreversible. The shunt’s type, size, and duration influence the likelihood that, and rapidity with which, irreversible PAH will develop. Thus, these factors will be important in determining the age at which patients with irreversible PAH present. Type and size of the shunt determine the magnitude of shunt flow, which in turn determines the amount of shear stress on the endothelial surface of resistance-level pulmonary arteries. Shear stress induces vasoactive changes and ultimately permanent obstructive structural changes in these arteries. Pulmonary vascular histology in shunt-induced irreversible PAH resembles that described for idiopathic PAH, with medial thickening and plexiform lesions in severe cases.

The various types of PAH seen in adults can be categorized based on the causative factors and the pathophysiology. The lower limit for mean PA pressure for defining PAH has been lowered to >20mm Hg from 25 mmHg, with the caveat that for definition of precapillary PAH the PVRI should be ≥ 3 Wood units ( Table 54.6 ).

Individuals with atrial-level left-to-right shunts are least likely to develop irreversible PAH, those with ventricular-level shunts are more vulnerable, and those with arterial-level shunts are at greatest risk. Whether the variation in risk among these different levels is solely related to shunt flow or to an underlying genetic predisposition is unknown. A number of specific congenital heart anomalies can lead to irreversible PAH. Unrepaired large atrial septal defect (ASD), ventricular septal defect (VSD), atrioventricular septal defect (AVSD), and patent ductus arteriosus (PDA) account for most cases, simply because these defects are common. However, many less common complex lesions, such as partial or total anomalous pulmonary venous return, unrepaired or palliated conoventricular defects, including truncus arteriosus or transposition of the great arteries (TGA), and single-ventricle variants, can also result in development of irreversible PAH. Other congenital causes of PAH unrelated to shunting include pulmonary vein stenosis and pulmonary venoocclusive disease.

Over time, as severe vascular obstructive changes develop, Rp approaches and exceeds systemic vascular resistance (Rs), causing a bidirectional or predominantly right-to-left shunt accompanied by oxygen-unresponsive hypoxemia, identified as Eisenmenger physiology. Segmental PAH may develop in patients with major aortopulmonary collateral arteries (MAPCAs) dependent pulmonary circulation . In patients with large ventricular- and arterial-level left-to-right shunts or unrepaired complex congenital heart defects, irreversible PAH can develop as early as the first year of life and Eisenmenger physiology within the first decade of life (see “ Pulmonary Vascular Disease ” under Natural History in Section I of Chapter 33 ); however, in patients with medium or larger ASDs, Eisenmenger physiology may not appear at all, but when it does, it typically appears in the second, third, or fourth decade. Pregnancy may unmask pending Eisenmenger physiology.

PAH and Eisenmenger physiology may develop late after surgical repair of left-to-right shunts and carries a worse prognosis. The most common explanation is that the repair was performed too late or was incomplete. However, additional factors such as LV hypertrophy and diastolic dysfunction, valve abnormalities, pulmonary venous hypertension or obstruction, restrictive or hypoventilatory lung disease, chronic liver disease, and toxin use must be considered and, if present, addressed to the degree possible.

Dyspnea on exertion is the most commonly presenting symptom of patients with severe PAH and Eisenmenger physiology, followed by palpitations, peripheral edema, volume retention, hemoptysis, syncope, and progressive cyanosis. Morbidity is progressive and becomes substantial, typically by the third decade of life. Hypoxemia-related secondary erythrocytosis leads to increased blood viscosity and intravascular sludging. Organ damage may result in the brain from cerebrovascular changes brought about by sludging, with resultant stroke, and in the kidneys, with altered renal function. Right heart pressure and volume overload cause elevated systemic venous pressure leading to hepatic dysfunction. Hyperuricemia may result in gout. Hemoptysis is potentially life threatening. Chest pain due to right ventricular (RV) ischemia, coronary artery compression by a dilated pulmonary artery, or arteriosclerosis may occur with exertion or at rest. Ultimately, right heart failure is inevitable. Poor functional status is an important predictor of mortality, as are serologic evidence of low systemic organ perfusion, worsening hypoxemia, and LV systemic dysfunction. Premature death is the rule. The immediate modes of death include RV failure, severe hemoptysis from bronchial artery rupture or pulmonary infarction, complications during pregnancy, and cerebral vascular events, including occlusive strokes, systemic paradoxical embolization, and brain abscesses. ^, Death during noncardiac surgery also occurs.

Changes that occur with left-to-right shunt-related PAH can be reversible after eliminating the shunt, provided that the surgery is performed during the vasoactive stage of PAH development, before irreversible obstructive pulmonary vascular changes occur. Catheterization-based calculations of Q ˙ p , individualized measurements of resistance in isolated lung segments, and direct measurement of pulmonary venous pressure are typically used to assess PAH reversibility and likelihood of surgical success. One hundred percent inspired oxygen, inhaled nitric oxide, and intravenously administered prostacyclin are frequently used in such investigations to determine the degree of pulmonary vascular reactivity and the potential to subsequently lower pulmonary artery pressure with surgical correction of the shunt. Increasingly, acute and chronic pharmacologic pulmonary vasodilatory and vascular remodeling therapy accompanies surgery in these cases. Specific data are not available that firmly establish the pressures, flows, and resistances that determine if operation to remove the shunt is indicated. The level of shunt also determines operability. In general, a Pulmonary Vascular Resistance Index (PVRI) of less than 3 WU is considered safe. Patients with PVRI between 3–5 WU may be considered for shunt closure if Qp/Qs is more than 1.5:1. Patients with PVRI over 5 WU are not considered for surgical shunt closure unless there is fall in PVRI with targeted therapy.

If evaluation determines that surgical closure of the shunt is indicated, a multidisciplinary team approach is mandatory, including an anesthesia team and intensive care team experienced in managing both PAH and the adult with CHD. The surgical procedure itself will often be technically simple; however, pre- and postoperative management will not. The optimal type and mode of anesthetic administration should be individualized (see Chapter 4 ). Risk of right-to-left embolization warrants avoiding bubbles following intravenous catheter placement. Use of inhaled nitric oxide both pre- and postoperatively should be considered.

Diagnosis of Eisenmenger physiology requires a detailed history, documenting all previous cardiac surgical and interventional procedures and medical treatments. Thorough documentation of the current cardiac morphology and cardiopulmonary physiology is mandatory using chest radiography, electrocardiography, echocardiography, cardiac catheterization, computed tomography (CT), pulmonary function studies, and assessment of all end-organ function. Once the diagnosis is made, the option of surgical treatment by repair of the anomaly causing the shunt is no longer an option because this approach will result in physiologic decompensation from severe PAH, right heart failure, and mortality. Proven treatment options are strictly medical, with the exception of lung or heart-lung transplantation (see Chapter 21 ). Selected patients may benefit from heart-lung or double lung transplantation as improved survival rates have been documented in the current era. ^, Medical treatment options are complex and must be tailored to the individual patient, as discussed in detail in the 2022 ESC/ERS Guidelines.64 The evolving concept of treat and repair , meaning initially using advanced pharmacologic regimens to treat PAH followed by surgical repair of the structural anomaly, has the potential to change some patients from “inoperable” to “operable,” although long-term benefit is currently unknown.

Myocardial dysfunction resulting in depressed cardiac function (heart failure) is present more frequently in adults being considered for surgery to correct a structural heart anomaly than in neonates, infants, and children. Distinguishing between heart failure and existing structural heart disease as the cause of cardiopulmonary decompensation is critical to successful decision making and managing of adults with CHD. Recognizing heart failure may be difficult because the associated congenital cardiac condition may mimic symptoms of heart failure. For example, dyspnea on exertion may be due to cyanosis and not heart failure.

Heart failure can complicate repaired CHD with valve lesions involving either right or left ventricles with a biventricular circulation, the systemic right ventricle, or the single ventricle after Fontan procedure. Unrepaired atrial septal defects or congenital valve lesions can present with late heart failure. The process can be further accelerated by noncongenital conditions or comorbidities including coronary artery disease, systemic hypertension, diabetes mellitus, pregnancy, chronic pulmonary disease, illicit drug use, morbid obesity with obstructive sleep apnea, and chemotherapy for malignancy.

Adult CHD patients (29,991 aged 18–64) in a Quebec database were followed for 15 years to analyze their risk for the development of heart failure, for the purpose of creating a risk prediction model for future heart failure admissions. They found that 12.6% of patients had developed heart failure by age 65. In their list of significant factors predicting heart failure, the strongest predictors were an admission for heart failure in the past year, pulmonary hypertension, chronic kidney disease, and coronary artery disease. They suggested a targeted approach to those with a high score, with prompt referral to an adult CHD center where any reversible lesions contributing to failure may be evaluated and addressed before further deterioration.

Onset of heart failure may be very gradual in the adult CHD patient. The development of atrial tachyarrhythmias can not only precipitate symptoms in a previously asymptomatic CHD patient, but may signify a subtle underlying deterioration in their hemodynamics. Arrhythmia onset should stimulate investigation for cardiac residua, which can be improved at the same time as addressing the rhythm itself with an appropriate ablation or Maze procedure. Sinus node disease causing bradycardia can also play a role in heart failure and can be managed with a pacemaker insertion. In those with complete heart block who are already paced, the onset of heart failure may be an indication to consider biventricular pacing (i.e., resynchronization therapy). As yet the benefit of this in congenital adults has not been proven, especially in those with single or systemic right ventricles. In those with complex venous anatomy, occluded veins, or single ventricles, the pacing leads will need to be epicardial (See “ Arrhythmias ” Section).

At times the heart failure is related to early era surgery and associated myocardial damage or with prolonged bypass times, myocardial ischemic events, or inadequate surgical reconstructions that have placed a chronic pressure or volume load on the heart. When heart failure and structural heart disease coexist with these chronic lesions a case-by-case judgement must be made with respect to specific management. Other organ dysfunction may aggravate the cardiac condition and increase the risks of surgical repair. In some cases with poor ventricular function the surgery may be deemed too high risk or unlikely to improve quality of life, in which case the better option may be to consider heart or heart/multiple organ transplantation.

Reconstructive heart surgery should always be considered first in those with structural heart defects before resorting to transplantation. If pulmonary vascular obstructive disease is present and limits survival, lung or heart-lung transplantation should be considered (See Chapter 21 ). A lung transplant along with correction of a simple VSD can be considered in the case of a late presentation of left-to-right shunt with severe pulmonary hypertension. In the failing Fontan patient there may be liver cirrhosis or significant renal dysfunction that will require a combined heart liver or heart kidney transplant.

Outcomes after lung and heart-lung transplantation for PAH in adults with CHD are comparable to those reported for children. Fewer than 100 heart-lung transplants are performed internationally per year with a median survival of 3.3 years and 10 year survival of 32%. Other multiorgan transplants have occurred in even smaller numbers with CHD patients forming about 20% of the heart-liver cohort, but there are only about 15 per year in the United States. Outcomes appear to follow the typical liver transplant survivals, although data is limited. An international adult CHD registry of those assessed and accepted for heart transplant would inform our future decision-making in this complex patient group.

As stated earlier in this chapter, most forms of CHD are not cured by surgery or other interventions. Residual defects or surgical and interventional remnants present in most adults with CHD often predispose to infective endocarditis (see Chapter 14 ). More than 10% of patients with endocarditis have a history of CHD, and endocarditis is the cause for 4% of hospital admissions for adults with CHD. ^, Some anomalies carry a higher risk of endocarditis than others, including bicuspid aortic valve, unrepaired VSD, PDA, tetralogy of Fallot, TGA, single-ventricle anomalies with systemic to pulmonary artery shunts, and those whose repair includes a conduit or prosthetic valve. ^{, , ,} Surgical closure of a VSD reduces the risk of endocarditis, and when endocarditis develops at the site of a surgically-repaired defect, a residual patch leak is frequently observed. In a recent report, 14,224 patients were prospectively followed in the CONCOR ACHD registry (50.5% female, median age 33.6 years). Overall incidence of infective endocarditis was 1.33 cases/1000 person-years (124 cases in 93,562 person-years). Only valve-bearing prostheses were associated with higher risk of late endocarditis, whereas nonvalve bearing prostheses including valve repairs posed a risk for only 6 months after surgery. Fig. 54.5 shows the incidence of endocarditis in the various anatomic subgroups. Patients receiving transcatheter pulmonary valves are also at increased risk of developing late endocarditis of the prosthetic valve.

Incidence rate of infective endocarditis (IE) by main congenital cardiac defect. ASD , atrial septal defect; BAV , bicuspid aortic valve; cAVSD , complete atrioventricular septal defect; ccTGA , congenitally corrected TGA; CHD , congenital heart disease; CI , confidence interval; CoA , aortic coarctation; DORV , double-outlet right ventricle; LVOT (O), left-ventricular outflow tract (obstruction); MV , mitral valve; PA , pulmonary atresia; pAVSD , partial atrioventricular septal defect; PDA , patent ductus arteriosus; PS , pulmonary stenosis; py , person-years; RVOTO , right-ventricular outflow tract obstruction; TGA , transposition of the great arteries; ToF , Tetralogy of Fallot; UVH , univentricular heart; VSD , ventricular septal defect.

Reproduce from Kuijpers JM, Koolbergen DR, Groenink M, et al. Incidence, risk factors, and predictors of infective endocarditis in adult congenital heart disease: focus on the use of prosthetic material. Eur Heart J. 2017;38:2048-2056.

Definitive diagnosis of infectious endocarditis requires positive blood cultures with appropriate organisms and physical evidence of endocardial involvement (typically identified by echocardiography). Surface echocardiography may be adequate, but transesophageal echocardiography may be particularly helpful, especially when complex structural anomalies are present. ^, Once the diagnosis is made or suspected, further management should occur at a center with an established adult CHD program. Consultation with a cardiac surgeon who has a focus on adult CHD should be undertaken early in the patient’s course, because rapid deterioration requiring surgery is common. Relative indications for surgery are :

• •

  Development of hemodynamic decompensation

• •

  Evidence of embolic complications

• •

  Intractable infection despite appropriate antibiotic therapy

• •

  Infection of prosthetic valves, conduits, or other material

• •

  Abscess development

• •

  Contained rupture

• •

  Development of heart block

The indication to operate may be clear, or it may be ambiguous. Consultation among the cardiologist, infectious disease specialist, and surgeon should take place in all cases under consideration for surgery.

Recommendations for infectious endocarditis prophylaxis have changed in recent years. The 2007 AHA guidelines and the 2015 ESC guidelines recommend selective use of preventive antibiotic therapy, but also emphasize behavioral elements. The latter include maintaining daily oral hygiene and skin hygiene, particularly with respect to acne, and avoiding nail biting. Prophylactic antibiotic therapy is confined to dental procedures (no longer gastrointestinal or genitourinary procedures) in patients with prior endocarditis, prosthetic heart valves, conduits, shunts, unrepaired cyanotic CHD, CHD repaired with prosthetic patches or other material within 6 months of surgery, residual defects after reparative surgery for CHD if the residual defect is in the proximity of prosthetic material, and valve lesions in transplant patients.

Niwa and colleagues reported 69 cases of endocarditis in adults with CHD. Prior cardiac surgery and a history of cyanosis were common. Involvement of the left and right sides of the heart was equally common. Dental procedures, cardiac surgery, and pneumonia commonly preceded endocarditis. Streptococcus and Staphylococcus accounted for 87% of cases, with Streptococcus the most common organism. Surgical intervention was needed in 26% of cases, and the indication for surgery was large vegetations in 45% and heart failure in 29%. Endocarditis-related mortality was 8% in patients treated medically and 11% in those treated surgically. In the ESC-EORP-EURO-ENDO study, adult CHD patients ( n = 365, 11.7%) were compared with patients without CHD ( n = 2746) in terms of baseline characteristics and mortality. CHD patients (73% men, age 44.8 ± 16.6 years) were younger and had fewer comorbidities. Of the CHD patients, 14% had a dental procedure before hospitalization versus 7% in non-CHD patients ( P <.001) and more often had positive blood cultures for Streptococcus viridans (16.4% vs 8.8%, P <.001). As in non-CHD patients, IE most often affected the left-sided valves. Within the CHD population, multivariable Cox regression revealed the following effects (HR and [95% CI]) on mortality: fistula (HR 6.97 [3.36–14.47]); cerebral embolus (HR 4.64 [2.08–10.35]); renal insufficiency (HR 3.44 [1.48–8.02]); Staphylococcus aureus as causative agent (HR 2.06 [1.11–3.81]); and, failure to undertake surgery when indicated (HR 5.93 [3.15–11.18]). They concluded that CHD patients with endocarditis have a better outcome in terms of all-cause mortality. The observed high incidence of dental procedures prior to IE warrants further studies about the current use, need, and efficacy of antibiotic prophylaxis in CHD patients.

In a recent single center experience of 138 cases, the most common CHD lesions were bicuspid aortic valve (30%) and tetralogy of Fallot (14%) Seventy percent of patients had intracardiac prosthetic material. Of the cases where valvar IE was verified, 51% involved prosthetic valves. Surgical management was pursued in 53% of patients with 7% mortality; 11% of patients did not have surgical management due to elevated perioperative risk with 53% mortality; the remaining patients had nonsurgical management due to lack of severe features with 0% mortality. Overall mortality during the initial endocarditis treatment course was 9%, with all-cause mortality of 15%. Recurrence occurred in 12% of patients with median follow-up time of 1.68 years.

Both atrial and ventricular arrhythmias are an important cause of morbidity in adults with CHD, with ventricular arrythmias in particular being far more common in adults than in children ( Table 54.7 ). The causes of conduction system damage include prolonged cyanosis, volume and pressure overload, inadequate myocardial protection, surgical scarring and fibrosis around suture-lines or patches and coronary artery embolism or interruption making conduction tissue ischemic. Arrhythmias become more common with age and the routine follow-up of the adult CHD patient includes surveillance of the rhythm with not only ECG but also Holter studies as indicated. Surgery for arrhythmias is becoming one of the most common procedures in an adult CHD practice and it is now not uncommon for surgeons to perform arrhythmia surgery on those who have been asymptomatic or as prophylaxis due to our knowledge of future risks of an atrial or ventricular tachycardia developing.

In 2014, an Expert Consensus Statement was developed on the Management of Arrhythmias in adult CHD. In Table 54.8 , The prevalence of different arrythmias is shown across various common congenital heart defects. This consensus statement includes useful and detailed recommendations on indications for catheter ablation, pacemaker insertion, implantable cardiac defibrillator (ICD) insertion, resynchronization therapy (RCT), and concomitant surgical arrythmia surgery in association with CHD surgery which are valuable as the knowledge, expertise, and technical options in this area are expanding rapidly.

TABLE 54.8

Approximate Risk Estimates for Atrial Tachycardia (AT), Atrial Fibrillation (AF), Other Supraventricular Arrhythmias, Ventricular Arrhythmia, Sinus Node Dysfunction (SND), Atrioventricular (AV) Block, and Ventricular Dyssynchrony are Shown Across Various Congenital Heart Defects (CHD) of Simple, Moderate, and Severe Complexity. The Color-Coded Pattern Ranges from Minimal (No Shading) to Mild (Light Blue), Moderate (Medium Blue), and High (Dark Blue) Risk.

Reproduced from Khairy P, Van Hare GF, Balaji S, et al. PACES/HRS Expert Consensus Statement on the Recognition and Management of Arrhythmias in Adult Congenital Heart Disease: developed in partnership between the Pediatric and Congenital Electrophysiology Society (PACES) and the Heart Rhythm Society (HRS). Endorsed by the governing bodies of PACES, HRS, the American College of Cardiology (ACC), the American Heart Association (AHA), the European Heart Rhythm Association (EHRA), the Canadian Heart Rhythm Society (CHRS), and the International Society for Adult Congenital Heart Disease (ISACHD). Heart Rhythm. 2014;11:e102-e165.

Intraatrial reentrant tachycardia (IART), or atrial flutter, is the most common rhythm disturbance in adults with CHD. It usually develops late postoperatively, most often in patients who have had a right atrial incision or some other right atrial suture line. The amount of right atrial surgery tends to correlate with prevalence of IART, the greatest being in patients who have had Mustard atrial switch intracardiac type Fontan procedures. It can, however, occur after ASD closure. Pharmacologic therapy and catheter ablation are the first- and second-line therapeutic choices. Pacemaker placement to increase baseline heart rate may suppress fibrillation episodes if sinus bradycardia coexists. If a pacemaker is indicated, a transvenous approach is preferred; however, numerous contraindications exist, including presence of any intracardiac shunt (even if trivial, such as a small patent foramen ovale), previous bidirectional Glenn or extracardiac-type Fontan procedure, single-ventricle physiology of any kind, and upper body central venous thrombosis. In these situations, surgical pacemaker placement is indicated. Surgical therapy with a concomitant right atrial Maze procedure is indicated if reconstructive intracardiac surgery is planned. Isolated right atrial Maze may be considered if IART is poorly controlled by other means. The right atrial Maze procedure and its modifications have been shown to be effective in eliminating IART in Fontan patients undergoing concomitant conversion of an intracardiac-type Fontan to an extracardiac type (see Chapter 52 ).

Atrial fibrillation occurs most often in adults with congenital aortic stenosis, congenital mitral valve disease, or single ventricle. Medical therapy includes anticoagulation, pharmacologic ventricular rate control, and electrical cardioversion. Catheter ablation techniques have been developed for atrial fibrillation and may be performed if there is no plan for open surgery, but right and left atrial Maze at the time of reconstructive surgery gives the better chance of restoring a stable rhythm. If sinus bradycardia coexists with atrial fibrillation then the addition of atrial pacing is helpful.

Wolff-Parkinson-White accessory pathway is particularly common in Ebstein anomaly (see Chapter 48 ). Symptoms related to tachycardia increase in frequency and become more problematic in adulthood. Chronic tricuspid regurgitation induces atrial dilation, leading to atrial flutter or fibrillation and accelerated conduction across the accessory pathway. Catheter ablation in the electrophysiology laboratory is first-line therapy; however, it is less successful and is more likely to recur when structural heart defects are present. Intraoperative ablation of the accessory pathway should be performed in patients not responding to catheter-based therapy and in those undergoing surgery on an Ebstein tricuspid valve. Additionally, an atrial Maze procedure is indicated if atrial fibrillation or flutter is present.

Ventricular arrhythmias may develop in the adult with CHD. Macroreentrant ventricular tachycardia can develop late after ventricular surgery, related to ventriculotomy or VSD patching. In repaired tetralogy of Fallot, reentry circuits typically form through narrow conduction pathways created by right ventricular outflow tract (RVOT) scarring. Prevalence of late ventricular tachycardia or sudden death for repaired tetralogy is 0.5% to 6.0%. ^, Older age at repair, RV dilation, and QRS duration longer than 180 ms have been identified as risk factors for development of ventricular tachycardia and sudden death in tetralogy of Fallot patients. Palpitations, dizziness, or syncope warrant electrophysiologic testing in the adult with repaired tetralogy of Fallot. Presence of VT in the context of RV dysfunction may be an indication to expedite correction of RVOT disease and perform concurrent ventricular ablation therapy.

In a recent meta-analysis, moderate to severe RV dysfunction was the most significant image based risk factor for VT, more useful than the degree of pulmonary regurgitation. Fig. 54.6 summarized the 4 important groups of risk factors to consider when assessing an adult tetralogy patient. In the future, nuclear perfusion imaging that focusses on the degree of left and right ventricle scarring may prove to be an accurate predictor of the risk for VT in order to direct our use of ICD devices in this large adult CHD group. Ventricular tachycardia can develop in any form of CHD in the adult, even if there has never been a ventricular incision or suture line. The onset may coincide with deteriorating ventricular function.

Risk factors for all-cause mortality or ventricular tachycardia. LV , left ventricular; RV , right ventricular; VT , ventricular tachycardia.

Reproduced from Possner M, Tseng SY, Alahdab F, et al. Risk factors for mortality and ventricular tachycardia in patients with repaired tetralogy of Fallot: a systematic review and meta-analysis. Can J Cardiol. 2020;36:1815-1825.

Complete hemodynamic and electrophysiologic evaluation is required before therapy for ventricular tachycardia is undertaken. In selected cases catheter ablation can be performed, but this is unreliable as sole therapy, with recurrence that may exceed 20%, and pharmacologic therapy alone may be considered inadequate if a history of cardiac arrest exists. The indications for ICD therapy in adults with CHD are summarized in a consensus statement by Khairy and colleagues ( Table 54.9 ). As with pacemaker surgery, one needs to avoid endocardial leads where they lie in a systemic atrium or may aggravate a regurgitant inlet valve, or narrow an already partially obstructed venous pathway. Therefore many of these ICD placements will need to be done using surgical epicardial lead and defibrillator lead placement.

If structural cardiac anomalies with important hemodynamic impairment are present in an adult with ventricular tachycardia, surgical repair of the anomaly combined with either concomitant surgical ablation or concomitant surgical ICD placement may be indicated. In such cases, it is necessary to map the ventricular tachycardia, either by preoperative electrophysiologic testing or intraoperative mapping. If a discrete focus of ventricular tachycardia is inducible and there is no clinical history of cardiac arrest, surgical ablation may be the best option. A typical situation appropriate for this form of therapy is the patient with tetralogy of Fallot originally repaired with a transanular patch who presents late with severe pulmonary regurgitation, a dilated right ventricle, and inducible ventricular tachycardia mapped to the RVOT. Surgical therapy includes placing a pulmonary valve prosthesis and creating cryoablation lesions from the outflow patch to the pulmonary trunk and from the outflow patch to the tricuspid anulus.

Follow-up electrophysiologic evaluation is indicated in all such cases to determine if ventricular tachycardia is controlled. Placement of an ICD is indicated if ventricular tachycardia is inducible at follow-up. In the patient presenting with a history of cardiac arrest whose evaluation reveals structural disease as well as ventricular tachycardia, or the patient with structural disease and poorly localized ventricular tachycardia, the best choice of therapy is probably structural repair and concomitant surgical ICD placement.

Sinoatrial (SA) node dysfunction in adults with CHD typically is acquired, occurring as a result of localized trauma or ischemia following previous cardiac surgery. The most common procedures that result in SA node dysfunction are the Mustard, Senning, Glenn, and Fontan operations. Less frequently, SA node dysfunction is congenital, associated with some forms of heterotaxy syndrome. Patients with SA node dysfunction may be symptomatic as a result of chronotropic incompetence or of development of atrial fibrillation or flutter, which are more likely to occur when SA node dysfunction is present. Ventricular tachycardia can also develop as a result of prolonged sinus pauses. Placing a pacemaker system is indicated in several circumstances. Implantation of an atrial, or atrioventricular sequential, pacing system with activity responsiveness is indicated for symptoms related to chronotropic incompetence, tachy-bradycardia syndrome, recurrent atrial tachycardias, and pause-dependent ventricular tachycardia. It is also indicated for the asymptomatic adult patient with a resting heart rate of less than 40 beats per minute or atrial pauses greater than 3 seconds. Typically, atrioventricular conduction is normal when SA node dysfunction is present; therefore, atrial pacing alone is effective therapy. Nevertheless, atrioventricular sequential pacing systems are recommended in all cases, with appropriate programming of the system such that atrial pacing occurs along with natural atrioventricular conduction. Pacemaker systems can be placed transvenously or surgically. Surgical placement is indicated in the presence of single-ventricle physiology, bidirectional cavopulmonary anastomosis, Fontan surgery, distorted or thrombosed upper body central veins, and any intracardiac shunt; otherwise, transvenous placement is preferred.

Atrioventricular (AV) block in the adult with CHD may be acquired or congenital. Acquired block is more common and results from surgical trauma to the AV node or surrounding tissues during intracardiac repair. Block usually develops during surgery. Typical operations that may result in block include closure of perimembranous or inlet VSDs, resection of left ventricular outflow tract obstruction (LVOTO), and surgery to repair or replace the inlet valves. Transient block with full recovery of AV conduction is not uncommon after these operations, and recovery typically occurs within 10 days. Transvenous or surgical placement of an AV sequential pacing system is indicated if recovery of second- or third-degree block has not occurred after 7 to 10 days of observation, sooner if the underlying rate is very slow, the leads need to be epicardial, or there is bifascicular block on the ECG.

The AV node and bundle of His may also be congenitally abnormal, associated with specific anomalies such as congenitally corrected TGA and AVSD. ^{, ,} These patients are more likely to develop block with any form of intracardiac manipulation and to develop spontaneous block either before or after surgery. Spontaneous development of second- or third-degree heart block is an indication for either transvenous or surgical placement of an AV sequential pacemaker system.

Other organ systems may be abnormal in the adult with CHD due to the altered hemodynamics, chronic cyanosis, their underlying syndrome or specific lesion. These issues may require multidisciplinary medical management for optimal care and contribute important morbidity and mortality risks when cardiac and noncardiac surgery is performed. Specialist cardiac anesthetists are valuable members of the adult congenital cardiac team and should be involved not only for cardiac but also non cardiac surgeries, obstetric deliveries, and investigations requiring a general anesthetic. There is an extensive list of potential management issues which need to be understood by anesthetists as they look after an adult CHD patient which require familiarity with the congenital morphology and physiology as well as the specific pitfalls, such as right to left shunting, which can create major consequences if not recognized.

Altered hemodynamics can lead to pulmonary vascular abnormalities, as discussed under Pulmonary Arterial Hypertension and Eisenmenger Physiology earlier in this section. In adults after repair of coarctation of the aorta, or in an unrepaired state, systemic hypertension and decreased systemic vascular compliance creates left ventricular hypertrophy and diastolic dysfunction, which means adults may be more vulnerable to vasodilation and low mean arterial pressures under anesthesia. They may also have associated intracranial aneurysms which should be studied if there are any neurologic signs or symptoms or if arch surgery is being contemplated. Long-standing elevated right-sided venous pressures occur in adults with Fontan physiology and dysfunctional right ventricles after tetralogy or truncus surgery or in Ebstein anomaly, and may result in chronic hepatic venous hypertension and congestion, leading to hepatic dysfunction, cirrhosis, gastroesophageal varices, and even hepatocellular carcinoma. Surveillance of the liver and involvement of hepatologists where abnormalities are found has now become a standard part of adult Fontan care. The Model for End-Stage Liver Disease (MELD) score has been introduced to help quantify the level of dysfunction and estimate risk, particularly important if CPB surgery is planned, as liver dysfunction can be aggravated by the lack of pulsatile flow on bypass and lead to liver ischemia, vasoplegia, and operative mortality.

The kidneys may also have dysfunction, not only secondary to the elevated right sided venous pressures but also repeated episodes of acute kidney injury after past surgeries. An elevated creatinine is a risk factor for operative mortality and is now included in some risk scores (See Outcomes Section) with a standard cut-off being an eGFR of below 60.

Chronic elevation in venous filling pressures can also produce chronic lymphatic dysfunction, commonly seen in adults with a failing Fontan physiology who may have protein losing enteropathy with a low serum albumen, chronic chylous pleural effusions, or rarely, plastic bronchitis. These problems make them high risk surgical candidates and their nutrition and cardiac status should be optimized first if the indication is not too urgent.

Chronic cyanosis leads to erythrocytosis, iron deficiency, and clotting disorders. Blood viscosity is increased. Combined erythrocytosis and iron deficiency leading to microcytosis increases risk of thrombosis and stroke, which may be particularly relevant perioperatively. Additionally, cyanosis-related platelet dysfunction and deficiency of plasma and clotting factors due to erythrocytosis combine to increase the risk of hemorrhagic complications, again of particular relevance perioperatively. An additional complication of erythrocytosis is an increased rate of red cell turnover, leading to abnormal bilirubin metabolism and development of gall stones. The risk of cholecystitis and pancreatitis perioperatively is increased. Chronic cyanosis also leads to renal glomerulosclerosis. Glomerular filtration rate is decreased, resulting in creatinine elevation.

Scoliosis and pectus deformities are common in association with congenital heart disease, particularly in those with chronic cyanosis. This may be associated with deformity of the whole thorax, and restrictive lung disease and causes ventilatory compromise. Even after orthopedic procedures the chest wall remains stiff, leading to difficult access to the heart when performing cardiac operations, further compromised if the cardiac position is displaced by the sternal deformity. Pulmonary function tests are required.

There is a risk of stroke after all cardiac procedures in patients of all ages. Adults with CHD have an increased risk of major cardiovascular events including ischemic strokes, out of proportion to the usual cardiovascular risk factors, which contributes to their increased mortality rates, even with a lower- complexity congenital lesion.

A number of syndromes are associated with CHD, many associated with neurologic, developmental, and cognitive deficits, ( Table 54.10 ). Many of these syndromes include other coexisting disease processes in other organ systems ( Table 54.11 ) that represent specific risks during anesthesia and surgery, as described in Table 54.10 above.

The deficits may be mild enough in many cases to allow these individuals to live somewhat independently. When the cardiac surgeon is asked to consult on the adult patient with CHD, he or she must keep in mind that the patient may have one of these syndromes. Additionally, many adults with CHD who do not have specific syndromes may be overprotected by caring family members and may not have the emotional or intellectual maturity expected for their age. Accordingly, these patients may have limited ability to fully appreciate the complexities, risks, complications, and alternatives to a proposed surgical procedure. Family members and primary care providers should be included in such consultations.

In the more severe cases of neurodevelopmental delay, where there may not be understanding or cooperation from the patient, or where there are particular fears such as needle phobias, careful thought and planning with the team is necessary before embarking on a procedure to allow for better control, monitoring, and care delivery during the postoperative phase. The involvement of a psychologist to work with the adult pre and postoperatively is often helpful in this situation.

Preparatory and technical considerations during repeat sternotomy are described in Chapter 5 . Many adults undergoing surgery for CHD have had at least one, and often several, previous cardiac operations via median sternotomy. Risk of life-threatening hemorrhage is present with any repeat sternotomy. Other risks include entry of air into the circulation and arrhythmias. Thus, special preparation is required when repeat sternotomy is planned. First, all previous operative notes should be obtained and reviewed. Along with the details of previous cardiac procedures, they may provide important information regarding whether a prosthetic barrier was placed between the sternum and cardiac structures, whether the native pericardium was reapproximated, and whether difficulty was encountered during the previous sternotomy. Also, comments warning about such things as conduit placement in proximity to the posterior sternal border may be given. Second, CT or MRI of the chest can be helpful in defining the position of the anterior border of the heart, ascending aorta, pulmonary trunk, brachiocephalic vein, and conduits relative to the posterior sternal table.

All patients should be draped so that the groin vessels are exposed, and the sternal notch if an aortic aneurysm is present. All patients should have defibrillator pads placed on each side of the chest, and this should be confirmed at the “Time out” check before starting.

Definition, surgical history, morphology, and natural history, as well as general aspects of pathophysiology, clinical presentation, diagnosis, and treatment of specific anomalies discussed in the remainder of this chapter, are described elsewhere in this book in the specific chapters named for each anomaly. The following sections focus on preoperative, operative, and postoperative care issues that are specifically related to adults with these anomalies.

Several studies provide an overview of the practice of adult congenital cardiac surgery.

The most recent of these is an analysis of 12,513 procedures in 116 centers from the Society of Thoracic Surgeons Congenital Heart Surgery database between 2000 and 2013. The in-hospital mortality was analyzed for the 152 most common procedures in adults 18 years of age and older, and compared with outcomes in the pediatric age group. ( Table 54.12 ) lists the 152 procedures including actual numbers of adults and thus confirming that pacemaker procedures, pulmonary or RV outflow surgery, and atrial septal defects are the commonest operations. The overall unadjusted mortality in adults was 1.8%, and from the data each procedure was assigned an adjusted mortality risk score (ACHS) ranging from 0.1 to 3.0 (See Table 54.13 ). The lowest risk operation was ASD closure (0.2%) and highest risk was the Fontan conversion (9.7%). Significant differences in mortality were also demonstrated between children and adults for specific operations such as the Ebstein repair, where adults had lower risk, versus the Fontan operation, where they were much higher risk than children, making the point that when scoring according to procedure, including adults and children in the same analysis may obscure the significant findings.

In a further initiative, a useful score for estimation of risk in adult CHD surgery was developed by using data from a large tertiary UK center between 2003 and 2019. 1,782 procedures were analyzed with over 50% having resternotomies and there were 31 (1.7%) deaths. They used factors from the EuroSCORE II as well as additional CHD related factors including the ACHS score from the above study, to come up with a PEACH (Perioperative ACH Score) for each patient. This was then validated with a second cohort from a different European hospital doing 975 procedures, reporting mortality for low, medium and high risk adults ( Fig. 54.7 ) based on a risk scoring algorithm ( Table 54.13 ) This is a useful tool for both adult congenital cardiologists and surgeons to inform their decisions and then give a risk estimate to their patients as they counsel them about surgery, especially in the subgroups where numbers are small and data on outcomes for specific surgeries is still scarce, given that many of the components of the score are not procedure based.

(A) The PErioperative ACHd (PEACH) score is calculated from the risk factors shown, the presence of each of these contributing 1 point to the final score. Low-, intermediate-, and high-risk groups relate to different postoperative in-hospital mortality. (B) Predicted versus actual mortality in the development and validation cohorts is shown. CABG ¹ ⁄4 coronary artery bypass grafting; NYHA ¹ ⁄4 New York Heart Association.

Reproduced from Constantine A, Costola G, Bianchi P, et al. Enhanced assessment of perioperative mortality risk in adults with congenital heart disease. J Am Coll Cardiol. 2021;78:234-242.

Data on surgery in adults with CHD from the European database comprising 20,602 patients was analyzed by Vida and colleagues. The most common procedural groups included septal defects repair ( n = 5740, 28%), right-heart lesions repair ( n = 5542, 27%) and left-heart lesions repair ( n = 4566, 22%); almost one-third of the procedures were reoperations ( n = 5509, 27%). Surgery types and mortality rates are shown in Tables 54.14 and 54.15 and they demonstrated a decreasing incidence of surgery for septal defects over time and increasing proportion of surgeries for right and left heart lesions. Overall mortality was 3%.

Data from the CONCOR (CONgenital CORvitia) Dutch national registry of adults with CHD show several notable gender-specific outcomes in 7414 patients. Women had a 33% higher risk of pulmonary hypertension, a 33% lower risk of aortic events, a 47% lower risk of endocarditis, and a 55% lower risk of arrhythmias and ICD placement. There were no gender-related mortality differences.

Definition, morphology, and basic physiology of ASD are described in Chapter 29 . ASD is one of the most common anomalies found in adults. It typically presents as newly diagnosed primary disease, or previously diagnosed primary disease with benign physiology. It constitutes roughly 30% of newly diagnosed CHD cases in adults.

The chronic right-sided volume and pressure overload found with large ASDs leads to reduced aerobic capacity, atrial arrhythmias, and respiratory infections. Dyspnea and palpitations are the most common presenting symptoms, typically in the third and fourth decades of life. Atrial fibrillation or flutter and paradoxical embolism may also lead to presentation. Pulmonary arterial hypertension (PAH) is usually mild and primarily flow related; however, severely elevated pulmonary vascular resistance (Rp) and obstructive pulmonary vascular disease leading to Eisenmenger physiology can occur in a minority of patients.

Smaller ASDs—those less than 5 mm in diameter—and PFOs do not cause these changes, but can be the source (as can larger ASDs) of paradoxical emboli. Defects smaller than 1 cm may not cause symptoms for many decades, but the left-to-right atrial shunt may increase later in life as left ventricular compliance decreases because of acquired cardiac diseases such as coronary artery disease and hypertension, causing symptoms to develop late.

The electrocardiographic and chest radiographic findings are the same in the adult as in the child (see Chapter 29 ). The mainstay of diagnosis is echocardiography. In adults, transthoracic studies may produce inadequate images of the atrial septum. Transesophageal studies often produce more accurate atrial septal images and detail the dimensions and position of the defect. PAH is estimated by measuring velocity of tricuspid regurgitation flow, if present. Contrast echocardiography can be used to confirm atrial-level shunting if direct imaging and color Doppler evaluation are not definitive. Both magnetic resonance imaging (MRI) and computed tomography (CT) angiography may be helpful if echocardiography is not definitive and are particularly helpful in defining the pulmonary venous anatomy in sinus venosus ASD. MRI is preferred to CT, as it provides flow parameters in addition to anatomic details. More advanced imaging like three dimensional printing, computational modelling and holograms are useful in planning therapeutic interventions like trans-catheter closure of sinus venosus defects Cardiac catheterization is reserved for three situations: to assess pulmonary vascular hemodynamics if PAH is suspected or confirmed; to assess presence of coronary artery disease and measure left ventricular end-diastolic pressure, typically in patients over age 35 (male) and 40 (female); and as a therapeutic procedure if percutaneous device closure is planned.

Adults with a history of VSD closure as an infant or child may present with infectious endocarditis in the presence of a small residual defect; distortion of the tricuspid valve septal leaflet due to previous VSD closure, resulting in clinically important tricuspid regurgitation or progressive aortic regurgitation due to surgical injury; distortion of the valve during VSD closure; or prolapse of the valve into the VSD prior to VSD closure that progresses after closure.

Transthoracic echocardiography is usually diagnostic for patients with unrepaired or previously repaired VSD unless the surface windows do not provide adequate images. In that case, transesophageal echocardiography is usually diagnostic. It is important not only to focus on size and position of the native or residual VSD, but also to rule out aortic valve prolapse and regurgitation, tricuspid regurgitation, double-chamber right ventricle, subaortic membrane, membranous septal aneurysm, primary pulmonary arterial hypertension (PAH), and ventricular dysfunction.

If PAH is suggested by echocardiography, diagnostic cardiac catheterization is indicated to assess status of the pulmonary vascular bed (see “ Pulmonary Arterial Hypertension and Eisenmenger Physiology ” in Section I). Cardiac catheterization may also be indicated in the patient with a small to moderate VSD, either unrepaired or repaired with a residual defect, for whom the indications for surgical closure are equivocal. Specific data obtained at catheterization may assist in the decision to close the VSD, including magnitude of the shunt, left ventricular end-diastolic pressure, pulmonary artery pressure, and pulmonary vascular resistance (Rp). Catheterization and angiography may also be indicated to assess the coronary arteries if arteriosclerotic disease is suspected, if the patient is older than age 35 (male) or 40 (female), or to further characterize unusual structural problems, such as membranous septal aneurysms.

Magnetic resonance imaging (MRI) and computed tomography (CT) may play a role in defining anatomic details if echocardiography is not definitive. These imaging modalities may help define multiple VSDs, unusually positioned muscular VSDs, and suspected associated pulmonary artery or vein anomalies.

The clinical presentation of repaired AVSD depends on the nature of residual or recurrent lesions after repair, and on development of new lesions. The most common residual or recurrent lesion is left-sided AV valve regurgitation, which presents with left ventricular volume overload and failure, left atrial dilation, and atrial fibrillation. The next most common lesion is subaortic LVOTO, which may be residual, recurrent, or new onset. Signs and symptoms are the same as for any patient with left ventricular outflow obstruction. Other presentations include signs and symptoms related to left or right AV valve stenosis, right AV valve regurgitation, residual ventricular septal defect VSD, endocarditis related to any of these residual structural lesions, or PAH, particularly in patients with repaired complete AVSD.

The electrocardiogram shows typical superior left-axis deviation, and this finding alone in a previously undiagnosed adult is highly suggestive of AVSD. In adults with residual or recurrent lesions, electrical findings of left atrial enlargement, left ventricular hypertrophy, and RV hypertrophy may be present. Atrial fibrillation or flutter may also be present.

The chest radiograph will show a prominent pulmonary artery bulb and distal pulmonary artery pruning if PAH is present, cardiomegaly if valve regurgitation or left-to-right shunting exists, and pulmonary venous congestion if left-sided AV valve regurgitation is present. Echocardiography is diagnostic, just as it is in infants and children. In previously repaired patients, this study should focus on determining presence of residual atrial or ventricular shunts, right and left AV valve function, left ventricular outflow (LVOT) patency, and signs of PAH.

Cardiac catheterization is performed in all unrepaired adults under consideration for surgical repair to assess the pulmonary vasculature. Coronary angiography is indicated if the patient is over age 35 (male) or 40 (female) or if coronary insufficiency is suspected. Catheterization may also be indicated to assess PAH in repaired patients and general hemodynamics in patients with equivocal indications for surgical intervention. Magnetic resonance imaging can be helpful in assessing regurgitant fraction when AV valve regurgitation is present in patients with equivocal indications for surgical intervention.

Small PDA is asymptomatic, causing clinically unimportant left-to-right shunt. A continuous murmur may or may not be detectable, depending on size of the PDA. The patient may present with endocarditis or endarteritis.

Moderate PDA results in restrictive left-to-right shunting of variable magnitude, depending on its size. The larger the PDA, the more likely it will cause shortness of breath, fatigue, a wide pulse pressure, left atrial and ventricular enlargement, and some elevation of pulmonary artery pressure. In some cases, initial presentation is an incidental finding of ductal calcification or aneurysm on chest radiography or other imaging.

Large PDA is nonrestrictive and produces a large left-to-right shunt, pulmonary arterial hypertension (PAH), and almost always Eisenmenger physiology. Lower body cyanosis develops with advanced Eisenmenger physiology. Left and right ventricular failure may be present.

The electrocardiogram is abnormal with large PDA, showing left atrial enlargement and left (volume-loaded) and right (pressure-loaded) ventricular hypertrophy. Chest radiography varies from normal to abnormal depending on shunt size. With larger shunts, cardiomegaly from left atrial, LV, and RV enlargement is seen. The pulmonary trunk is prominent. Calcification of the ductus may be detected.

Echocardiography confirms the diagnosis by using color Doppler to identify flow across the ductus. If PAH is present, pressure gradient and flow across the ductus are small, and echocardiography may fail to identify the PDA. Cardiac catheterization is performed in most cases of adult PDA, either as a diagnostic tool to assess the state of the pulmonary vasculature in large PDAs, or as a therapeutic tool to close small and some moderate PDAs. Magnetic resonance imaging or computed tomography may be useful if the PDA is complicated by aneurysm or when there are aortic arch abnormalities. Using these, the specific size and position of the aneurysm and its adjacency to other structures can be determined. Most reported aneurysms are patent at only one end, either aortic or pulmonary, but cases of true patency have been reported.

Patients with primary or secondary disease often present with gradual stenosis and/or regurgitation that eventually leads to symptoms or physiologic criteria for surgical intervention. ^, Less often, the primary presentation is ascending aorta dilation and, rarely, aortic dissection, aneurysm, or rupture. Occurrence of dissection may be tenfold higher than in the normal population. Associated coarctation appears to increase risk of dissection. Occasionally, BAV presents with signs and symptoms of infective endocarditis.

Adults with secondary disease may present due to a failed aortic valve repair, degenerated bioprosthetic aortic valve, outgrown mechanical aortic valve, or regurgitant pulmonary autograft (Ross procedure). Bioprosthetic valves, especially smaller sizes, tend to require earlier replacement in young adults compared with older adults. This is due to a combination of patient growth after original placement and more rapid calcific degeneration. Need for replacement of mechanical valves is related to patient growth or gradual encroachment of pannus, and occasionally, acute endocarditis.

After the Ross procedure, neoaortic regurgitation necessitates reoperation in up to 10% of patients within a decade. ^, If the autograft is unsupported, neoaortic root dilation occurs in about half of cases by 7 years and may or may not be associated with neoaortic regurgitation.

Wrapping of the autograft with native or synthetic tissue appears to prevent this dilation and preserve autograft valve function in recent reports. ^, Risk of dissection or aneurysm formation in the dilated neoaortic root is very low. Coronary obstruction may present late after the Ross procedure because of scarring and kinking of the translocated coronary arteries or compression by the calcified right ventricle to pulmonary trunk conduit. A late development after the Ross operation is RVOT conduit failure, although freedom from conduit reoperation is better following the Ross operation than for conduits placed for other congenital heart diseases, such as tetralogy of Fallot. Brown and colleagues demonstrated freedom from conduit reoperation of 96% at 10 years. The need for conduit replacement in an adult after prior Ross may trigger consideration of valve sparing root procedure if there is significant autograft root dilation (before valve regurgitation develops). The close proximity of the left main and left anterior descending coronary arteries to the RV-PA conduit may increase the risk of future RV-PA conduit replacement and their suitability for interventional catheter procedures.

Electrocardiography and chest radiography show typical findings associated with aortic valve disease. Echocardiography is the mainstay of diagnosis. It is able to assess the degree of stenosis or regurgitation once the diagnosis is made and can identify when physiologic criteria are met for intervention. TEE is valuable for extra detail on valve leaflets and anular dimensions if repair is being considered. CT is useful to define the relationship of the aortic aneurysm to the sternum, and the course of the coronary arteries in relation to the aortic root. CTCA is performed when coronary assessment is indicated, primarily in patients over age 40, or if there is concern that primary coronary insufficiency is present or that coronary scarring or compression has developed following a Ross procedure or other aortic root replacement procedure. Magnetic resonance imaging (MRI) and computed tomography are indicated to assess ascending aorta size and to rule out dissection and aneurysm. Additionally, MRI can be used to quantify aortic regurgitation and pulmonary regurgitation and left and right ventricular size and function, particularly useful after the Ross Procedure.

Subaortic stenosis presents in a variety of ways in adults. It may be a primary and isolated lesion with the typical signs and symptoms of aortic stenosis, sometimes with associated aortic valve regurgitation. In one study, aortic regurgitation was present in 80% of patients, but was hemodynamically important in only 20%. Subaortic stenosis may also be a primary lesion associated with ventricular septal defect (VSD), atrioventricular septal defect (AVSD), or a conotruncal anomaly with subaortic conus. About half of all primary cases are isolated, and half are associated with other cardiac anomalies. ^,

Subaortic stenosis may also be a secondary lesion that develops after surgical repair of a spectrum of anomalies, including LVOTO obstruction, perimembranous VSD, posterior malalignment VSD with arch obstruction, AVSD, and conotruncal anomalies such as double outlet right ventricle or certain types of transposition of the great arteries. ^, Signs and symptoms at presentation are similar to those of valvar aortic stenosis.

Electrocardiography and chest radiography show typical findings associated with aortic stenosis (and aortic regurgitation if present). Echocardiography will demonstrate the morphologic characteristics of the subaortic region and proximity of the subaortic lesion to the aortic valve, assess aortic regurgitation, estimate the pressure gradient, and demonstrate left ventricular function. As with most complex intracardiac lesions in adults, transesophageal echocardiography (including 3D) will add important details to the surface echocardiogram. Cardiac catheterization plays a limited role in subaortic stenosis, primarily to assess the coronary arteries if necessary. There is no role for therapeutic catheterization. In complex cases, magnetic resonance imaging may provide a more detailed estimation of the LVOT including LV dimensions and aortic valve regurgitant fraction.

Because the pathologic processes in the arterial wall are diffuse and progressive, disease that was asymptomatic in childhood may lead to systemic hypertension (renal arteries and diffuse aortic hypoplasia), late-onset discrete systemic outflow obstruction (progression of supravalvar aortic stenosis), pulmonary hypertension (peripheral branch pulmonary artery stenosis and hypoplasia), or cardiac ischemia (coronary artery ostial obstruction, sinus of Valsalva inflow obstruction from progression of the supravalvar obstructive process, or coronary artery aneurysm or dissection). Due to the potential for cardiac ischemia, sedation and general anesthesia should be avoided where possible, or used with emergency team backup. In addition after repair of supravalvar AS, progressive aortic regurgitation may occur aggravated by the increased afterload from the systemic vascular stiffness.

The electrocardiogram will show varying degrees of left ventricular hypertrophy, reflecting the degree of left-sided outflow obstruction. If there is coronary artery involvement, there may be signs of ischemia or prior infarction. The chest radiograph may also show signs of left ventricular hypertrophy. Surface echocardiography reliably demonstrates the abnormal supravalvar aortic morphology, but cannot completely define the coronary artery, pulmonary artery, or diffuse changes in the remainder of the aorta and its branches. Transesophageal echocardiography may further define the intracardiac and proximal aortic morphology, and coronary origins, but has the same limitations as surface echocardiography with respect to more peripheral artery and coronary artery problems. Both magnetic resonance imaging and computed tomography (CT) are useful in defining the ascending and descending aorta and its major branches and the peripheral branch pulmonary arteries. Although CT can define the coronary artery abnormalities, cardiac catheterization and angiography are indicated for precise definition. Obstruction to coronary arterial flow may be caused by progression of the supravalvar stenosis leading to inhibition of blood entering the sinus of Valsalva, or from intrinsic coronary artery ostial obstruction from intimal thickening. In the most severe cases the sinus of Valsalva can be totally occluded as the free edge of the valve cusp fuses to the overhanging fibrous ridge of the discrete supravalvar ring. In longstanding obstruction collateral vessels may be evident between ischemic and nonischemic territories.

The adult with unrepaired coarctation typically presents with systemic hypertension. This may be accompanied by symptoms such as headache and lower extremity weakness, especially with exercise. On further evaluation a differential between upper body and lower body blood pressure is commonly noted; however, longstanding obstruction leads to collateral development, which can blunt or even eliminate the pressure differential. A lower body pulse delay remains in all cases.

Interrupted aortic arch rarely presents in adulthood as primary disease; rather, the majority of patients present critically ill as neonates and either undergo surgical repair or die. Adults with secondary disease following prior repair of interrupted aortic arch will present with signs and symptoms similar to those of patients with prior coarctation repair. There will be, however, a higher prevalence of late aortic valve and subaortic problems.

Patients with previously repaired coarctation or interrupted aortic arch most commonly present with residual or recurrent coarctation or hypertension, but may present with any of the signs and symptoms related to aortic, coronary, or cerebral vascular disease, or associated cardiac structural anomalies. Aortic aneurysm at the repair site is particularly likely in patients with prior polyester patch aortoplasty repair ( Fig. 54.22 ). Even if there is no recurrent obstruction, adults with a history of coarctation repair in childhood have reduced exercise capacity compared with normal individuals, particularly if systemic hypertension is present or repair was performed at an older age. In a significant proportion of cases there is no recoarctation at the repair site, but hypoplasia of the transverse arch or a gothic arch shape which may contribute to late post operative hypertension.

Cumulative incidence of descending thoracic aortic aneurysms after native coarctation repair by (A) patch aortoplasty ( n = 494) or (B) other methods ( n = 397).

(From Knyshov and colleagues. )

In unrepaired coarctation, the electrocardiogram will show left ventricular hypertrophy. Chest radiography may show cardiomegaly from left ventricular hypertrophy, aortic silhouette irregularities such as the reverse-3 sign of unrepaired coarctation or dilation and ectasia associated with prior repair, and rib notching from intercostal arterial collaterals. Echocardiographic imaging of the thoracic aorta is difficult in the adult, although color Doppler may show an obstructive pattern at the coarctation site, flow in intercostal collaterals, and blunted pulsation distal to the coarctation. Echocardiography is essential for documenting associated intracardiac structural anomalies and myocardial function. Magnetic resonance imaging (MRI) and computed tomography (CT) are the preferred methods for precisely defining the morphologic details of both primary coarctation and previously repaired coarctation or interrupted aortic arch in the adult, particularly when three-dimensional reconstruction is obtained ( Figs. 54.23 and 54.24 ). ^, Presence of calcification is important in surgical or catheter interventional decision making.

Computed tomography images of a 36-year-old woman with severe native coarctation of the aorta. Sagittal multiplanar reformatted (A) and left lateral volume-rendered (B) images show severe aortic narrowing (white arrows) below left subclavian artery. Enlarged internal thoracic arteries and dilated posterior collateral intercostal arteries connecting to the postcoarctation descending thoracic aorta are seen. (C) Anterior volume-rendered image shows enlarged internal thoracic arteries (black arrows) and dilated superior thoracic and thoracoacromial arteries (white arrows) . (D) Coronal maximum-intensity projection image shows dilated posterior collateral intercostal arteries causing rib notching.

(From Turkvatan and colleagues. )

Oblique sagittal plane image through aortic arch obtained by magnetic resonance. Aorta of a 21-year-old patient with coarctation of the aorta after undergoing polyester patch aortoplasty at age 21 years. Depicted are vessel wall abnormalities at the isthmus level (arrow).

(From Hager and colleagues. )

Accurate measurement of reduction in luminal diameter at the primary coarctation or repair site is an important factor used in management decisions. MRI can be used to calculate the amount of collateral flow present by subtracting flow in the aorta just distal to the primary coarctation or repair site from flow in the aorta at the diaphragm. It can also assess functional elastic properties of the aortic wall. These data may be particularly helpful in cases of both primary and recurrent coarctation when there is a smaller gradient than expected across the coarctation site and reduction in luminal diameter is equivocal. Ambulatory blood pressure measurements may also be contributory to decision making in this situation.

There is controversy over whether MRI of the head is indicated in all adults to rule out intracranial aneurysm. Management of the cerebral aneurysm, if found, may well be conservative with the focus on good management of the hypertension and any residual aortic lesions only. Therefore, some view brain MRI as indicated only if there are neurologic symptoms. Diagnostic cardiac catheterization is indicated primarily to assess the coronary arteries; or in cases with questionable criteria for intervention, a catheter pullback peak-to-peak gradient across the coarctation may provide definitive information.