Administration of anesthesia for invasive procedures in patients with ACHD AP classification IB-D, IIA-D, and IIIA-D* Performed by, or in collaboration with, an anesthesiologist with expertise in the management of patients with ACHD. ACHD-specific issues need to be addressed when considering anesthesia, including underlying cardiac physiology and hemodynamics, and the effects of anesthetic medications and ventilation strategies. The application of anesthesia for laparoscopic procedures can be especially challenging in Fontan patients. Significant cardiovascular and respiratory alterations may occur as a result of increased intra-abdominal pressure and decreased venous return. Abdominal insufflation may lead to lower preload and hypotension, while at the same time elevating systemic vascular resistance and compromising cardiac output. Elevations in pulmonary vascular resistance attributable to hypercarbia can be caused by either direct carbon dioxide absorption or hypoventilation.S3.3-19 If clinical urgency precludes transfer, consultation with an anesthesiologist with ACHD expertise would be of benefit to on-site providers who do not have ACHD expertise. Many patients with ACHD have had surgeries in the past, which may have created or identified airway or vascular access concerns. Patients with ACHD can also have underlying restrictive and/or obstructive lung disease that should be Patients with ACHD and pulmonary hypertension Consultation with experts in pulmonary hypertension and ACHD to assist in the interpretation of diagnostic and invasive studies and determine the best course of management. PAH imparts a poor prognosis compared with CHD without PAH. Because of the complexity of PAH in the setting of CHD, patients with ACHD benefit from the expertise of both ACHD providers and pulmonary hypertension Management of PAH in patients with shunts can be difficult. For example, in patients for whom PAH treatment is expected to allow subsequent closure of a shunt, cohort series demonstrate progression of pulmonary vascular resistance or late mortality if defects with associated pulmonary vascular resistance elevation beyond 2.5 Wood units (>4 Wood ) or Qp:Qs >3 were closed.S3.3- The utility of acute administration of pulmonary vasodilator therapy as a marker of reversibility of pulmonary vascular resistance remains uncertain. Treat-to-repair strategies involving use of PAH therapies to bring pulmonary vascular resistance into a range where repair can be considered have been applied, but the utility of such strategies also remains uncertain. *See Tables 3 and 4 for details on the ACHD AP classification system. 3D indicates 3-dimensional; ACHD, adult congenital heart disease; AP, anatomic and physiological; ASD, atrial septal defect; CCT, cardiac computed tomography; CHD, congenital heart disease; CMR, cardiovascular magnetic resonance; IE, infective endocarditis; PAH, pulmonary arterial hypertension; PR, pulmonary regurgitation; Qp:Qs, pulmonary systemic blood flow ratio; RV, right ventricle; TGA, transposition of the great arteries; TOF, tetralogy of Fallot; and VSD, ventricular septal defect. Table 6. Continued Circumstance Possible Solution Rationale Example Table 7. Use of ECGs in ACHD Evaluation Identification of sinus bradycardia or junctional rhythm in patients at risk of sinus node dysfunction (especially after the Mustard, Senning, Glenn, or Fontan procedure) Identification of clinically inapparent intra-atrial re-entry tachycardia in patients who have had atriotomy Identification of atrioventricular block in patients at risk for progression of atrioventricular conduction system disease (especially CCTGA) Evaluation of rhythm in patients with pacemakers Measurement of QRS duration in patients after repair of TOF and as part of CRT evaluation Preoperatively to compare with postoperative ECGs in patients undergoing heart surgery and noncardiac surgery Postoperatively to identify arrhythmias (eg, atrial ectopic tachycardia, atrial flutter, AF, junctional ectopic tachycardia, atrioventricular block) Diagnosis of Wolff-Parkinson-White Syndrome in patients with Ebstein anomaly Initial evaluation of suspected acute coronary syndromes ACHD indicates adult congenital heart disease; AF, atrial fibrillation; CCTGA, congenitally corrected transposition of the great arteries; CRT, cardiac resynchronization therapy; ECG, electrocardiogram; and TOF, tetralogy of Fallot. Table 8. Circumstances Where CMR, CCT, TEE, and/or Cardiac Catheterization May be Superior to TTE Assessment of RV size and function in repaired TOF, systemic right ventricles, and other conditions associated with RV volume and pressure Identification of anomalous pulmonary venous connectionsS3.4.4-16 Serial assessment of thoracic aortic aneurysms, especially when the dilation might extend beyond the echocardiographic windowsS3.4.4-7 Accurate assessment of PA pressure and pulmonary vascular resistance Assessment for recoarctation of the aorta Sinus venosus defects Vascular rings Evaluation of coronary anomalies Quantification of valvular regurgitation CCT indicates cardiac computed tomography; CMR, cardiovascular magnetic resonance; PA, pulmonary artery; RV, right ventricular; TEE, transesophageal echocardiography; and TOF, tetralogy of Fallot. CLINICAL STATEMENTS AND GUIDELINES Recommendations for Electrocardiogram COR LOE Recommendations I C-EO A standard 12-lead electrocardiogram (ECG) is recommended in adults with CHD with serial assessment depending on the specific ACHD AP classification or when symptoms develop or worsen. I C-EO Ambulatory electrocardiographic monitoring should be performed in patients with CHD who are at risk of tachyarrhythmia, bradyarrhythmia or heart block, or when symptoms possibly of arrhythmic origin develop. Recommendation-Specific Supportive Text 1. The ECG is an essential part of a complete car- diovascular evaluation of a patient with ACHD, similar to elements of the physical examination. Regardless of anatomic diagnosis, it is important to obtain an ECG at baseline for comparison to any subsequently obtained ECG, because an ab- normal baseline ECG is expected in many forms of CHD, particularly those who have undergone surgical repair. A follow-up ECG is recommended in specific lesions and in the setting of new or worsening congestion or low cardiac output syn- drome (Table 7). 2. Asymptomatic arrhythmias seen in patients with ACHD may be associated with development of symptoms and increased risk of death, and are more common in particular lesions or repairs. Bradyarrhythmias or tachyarrhythmias may occur, with some requiring treatment even when asymp- tomatic. For example, sinus node dysfunction is common in patients with atrial switch repairs of transposition of the great arteries (TGA), whereas complete heart block is seen in patients with con- genitally corrected transposition of the great arter- ies (CCTGA) or late after atrioventricular septal defect (AVSD) repair, especially in those patients with transient postoperative heart block.S3.4.1-1 S3.4.1-3 Some of these events have occurred as late as 15 years after surgery. The atrioventricular node is typically displaced inferiorly in AVSD, which is associated with relative hypoplasia of the left Atrial tachyarrhythmias are common in atrial switch repairs of TGA, Fontan repairs, and Ebstein anomaly.S3.4.1-5 S3.4.1-7 Thus, baseline and periodic screening for asymp- tomatic arrhythmias with ambulatory electrocar- diographic monitoring is advised to ensure that asymptomatic arrhythmias that would warrant a change in therapy are not present,S3.4.1-8 acknowl- edging the limitations of monitoring over short periods of time. Any symptoms of arrhythmia should prompt investigation to establish an accu- rate diagnosis and direct subsequent therapy. 3.4.2. Ionizing Radiation Principles Recommendation for Ionizing Radiation Principles Referenced studies that support the recommendation are summarized in Online Data Supplement 6. COR LOE Recommendation I B-NR Strategies to limit and monitor radiation exposure are recommended during imaging of patients with ACHD, with studies not involving ionizing radiation chosen whenever Recommendation-Specific Supportive Text 1. Low-dose ionizing radiation is a known carcin- ogen, and certain levels of exposure similar to medical exposure have been associated with later Patients with ACHD have multiple potential exposures to low-dose ionizing radiation throughout their lifetimes from cardiac catheterizations, computed tomographic (CT) scans, nuclear perfusion scans, stress tests, and chest x-rays. It remains unclear whether there is an increased risk of malignancy among patients with ACHD, but the exposure levels from multiple pro- cedures are in the range of concern. Every effort should be made to use tests without radiation whenever possible or to select protocols with the lowest possible doses of radiation compatible with securing the needed clinical information. Recommendations for Echocardiography Referenced studies that support recommendations are summarized in Online Data Supplement 7. COR LOE Recommendations I B-NR Intraoperative TEE is recommended to guide surgical repair of CHD in adults.S3.4.3-1 I C-EO Patients with ACHD should undergo transthoracic echocardiography (TTE) for initial assessment, with timing of serial assessment based on anatomic and physiological severity and clinical status. Recommendation-Specific Supportive Text 1. A large retrospective study has shown that the routine use of intraoperative TEE has a substantial impact on patient care, leading to alteration of planned procedure or revision of the initial repair in 14% of cases and was also determined to be CLINICAL STATEMENTS AND GUIDELINES 2. For patients with ACHD in whom abnormalities and changes that may be identified on echocar- diography (eg, valvular or ventricular function or pulmonary pressures) commonly influence man- agement decisions; echocardiography is an indis- pensable tool in the initial and serial follow-up evaluation. TTE is also valuable in the initial and serial evaluation of patients without symptoms or changes in examination (Table 8). 3.4.4. CMR Imaging Recommendations for CMR Imaging Referenced studies that support recommendations are summarized in Online Data Supplement 8. COR LOE Recommendations I B-NR In patients with ACHD who have or who are at risk of developing RV enlargement and dysfunction, serial CMR is recommended for quantitative assessment of RV size and IIa C-LD CMR can be useful in the initial evaluation and serial assessment of selected patients with CHD based on anatomic complexity and clinical status.S3.4.4-1,S3.4.4-2,S3.4.4-4 S3.4.4-10 Recommendation-Specific Supportive Text 1. CMR plays a valuable role in assessment of RV size and function, because it provides data that are re- producible and more reliable than data obtained with alternative imaging techniques.S3.4.4-1 S3.4.4-4 Real-time 3-dimensional (3D) echocardiography is an emerging technique that shows some promise for replacing CCT and even CMR for serial studies, especially when focusing on ventricular volumes and intracardiac structures only, and if reasonably complete data sets can be obtained.S3.4.4-11 2. CMR has unique value in the assessment and serial follow-up of patients with ACHD, because it offers unrestricted access to the heart and great vessels noninvasively and without ionizing radi- ation. The complexity and variability of lesions, repairs, and sequelae in CHD constrain the use of standard protocols and sequences, and often require modification of plans during acquisi- tion of images, as well as specialized skills in Thus,adedicatedCMR service is integral to an ACHD program.S3.4.4-4,S3.4.4-5 CMR can provide exquisite anatomic detail and unique physiological information in many forms of CHD. It has a particularly important role in the assessment of extracardiac cardiovascular defects (eg, CoA, aortic aneurysm, and abnor- malities of the thoracic arterial and venous anatomy and connections).S3.4.4-6,S3.4.4-7 The eluci- dation of uncommon, complex forms and vari- ations of CHD is routinely facilitated by a CMR Contraindications to CMR are com- mon in patients with ACHD, so they should be sought and confirmed. However, the high value of serial CMR has encouraged modification of newer pacemakers, leads, and other devices and imaging protocols to facilitate imaging in an expanding subset of patients with ACHD who have had previous instrumentation. If a contraindication is confirmed, alternative forms of imaging, especially CCT, can obtain much of the information otherwise obtained from CMR and some unique information not provided by However, CCT has the disadvan- tage of substantial patient exposure to ionizing radiation, especially when serial studies are con- templated over a lifetime.S3.4.4-9 Real-time 3D ech- ocardiography shows promise for replacing CCT and even CMR for serial studies, especially when focusing on ventricular volumes and intracardiac structures only, and if reasonably complete data sets can be obtained (Tables 8 and 9).S3.4.4-11,S3.4.4-15 3.4.5. Cardiac Computed Tomography Recommendation for Cardiac Computed Tomography Referenced studies that support the recommendation are summarized in Online Data Supplement 9. COR LOE Recommendation IIa C-LD CCT imaging can be useful in patients with ACHD when information that cannot be obtained by other diagnostic modalities is important enough to justify the exposure to Table 9. Comparison of Imaging Modalities Useful in ACHD Evaluation Radiation Exposure Relative Cost Ventricular Volumes/ Function Valvular Structure/ Function Coronary Anatomy and Course Extracardiac Vascular Anatomy Echocardiography No $ ++ +++ +/- +/- CMR No $$ +++ ++ ++* +++ CCT Yes $$ +* + +++ +++ Cardiac catheterization Yes $$ + ++ +++ ++ $ indicates less expensive; $$, more expensive; +/-, possible value; +, good; ++, very good; and +++, excellent. *In specific gated imaging protocols. ACHD indicates adult congenital heart disease; CCT, cardiac computed tomography; and CMR, cardiovascular magnetic resonance. CLINICAL STATEMENTS AND GUIDELINES Recommendation-Specific Supportive Text 1. The most important disadvantage of CCT (in- cluding CT angiography) as an imaging technique is the associated exposure to ionizing radiation. This is especially problematic in patients with ACHD in whom serial assessments are contem- plated over a lifetime.S3.4.5-1 Gating CCT to the ECG allows image acquisition during multiple phases of the cardiac cycle, thereby providing cine im- aging and the ability to select phases of the cycle of specific interest (usually end-systole and end- diastole), at the cost of increased radiation dose. Electrocardiographic gating is generally unneces- sary when the focus is assessment of extracardiac vascular structures, which can consequently be imaged using substantially lower doses of ionizing radiation. Ongoing development of protocols and equipment that reduce radiation exposure are 3.4.6. Cardiac Catheterization Recommendations for Cardiac Catheterization Referenced studies that support recommendations are summarized in Online Data Supplement 10. COR LOE Recommendations I C-LD Cardiac catheterization (hemodynamic and/or angiographic) in patients with ACHD AP classification II and III, or interventional cardiac catheterization in patients with ACHD AP classification I to III should be performed by, or in collaboration with, cardiologists with expertise in ACHD.S3.4.6-1 S3.4.6-4 IIa B-NR In patients with a low or intermediate pretest probability of coronary artery disease (CAD), use of CT coronary angiography is reasonable to exclude significant obstructive CAD when cardiac catheterization has significant risk or because of patient Recommendation-Specific Supportive Text 1. Cardiac catheterization remains a standard tool when diagnosis, prognosis, or management re- quire a) more precise definition of anatomy than is achievable via advanced noninvasive imaging (eg, structures with low flow or those shielded from other techniques), b) calculation of pressures and resistances, or c) physiological or anatomic simu- lation to allow additional calculation or anatomic visualization. Cardiac catheterization can provide unique information not reliably available from other diagnostic modalities (eg, direct pressure measure- ment in a vessel or chamber, determination of pul- monary artery (PA) pressures and resistance, and optimal imaging of vessels in which flow is com- promised). Procedures should be planned with ap- preciation of the anatomy and physiology likely to be encountered, including sequelae and residua of prior surgery and interventions. The expansion of interventional catheter tech- niques has dramatically expanded possibilities for interventional treatment for an increasing number of conditions. Operators require specialized train- ing and expertise in ACHD. In addition, catheteri- zation laboratories specially equipped with devices and tools used in ACHD intervention are needed and personnel trained in their use. Such equipment and expertise differ from those found in catheteri- zation laboratories devoted primarily to diagnostic catheterization and coronary interventions. 2. For patients at low or intermediate risk of obstruc- tive coronary disease, CT coronary angiography can be an alternative to cardiac catheterization for assessing coronary artery course and patency. 3.4.7. Exercise Testing Recommendations for Exercise Testing Referenced studies that support recommendations are summarized in Online Data Supplement 11. COR LOE Recommendations IIa B-NR In patients with ACHD, cardiopulmonary exercise testing (CPET) can be useful for baseline functional assessment and serial IIa C-LD In symptomatic patients with ACHD, a 6-minute walk test can be useful to objectively assess symptom severity, functional capacity, and response to therapy.S3.4.7-3,S3.4.7-4 Recommendation-Specific Supportive Text 1. Patients with ACHD often overestimate their physical capabilities and underreport limitations. In contrast to patients with acquired heart di- sease, patients with ACHD may never have ex- perienced normal function. Decline in physical capacity may occur imperceptibly over many Consequently, tools more precise than patient history are necessary for evaluation and serial follow-up of functional capacity. CPET provides objective, reproducible, and repeatable assessment of the cardiovascular, respiratory, and muscular systems and has been shown to have prognostic value in patients with a wide variety of 2. In severely impaired patients with ACHD, or those who cannot complete CPET for other reasons, the 6-minute walk test provides a more limited set of data, which nevertheless has prognostic value be- yond history alone.S3.4.7-3,S3.4.7-4 CLINICAL STATEMENTS AND GUIDELINES 3.5. Transition Education Recommendation for Transition Education Referenced studies that support the recommendation are summarized in Online Data Supplement 12. COR LOE Recommendation I B-NR Clinicians caring for patients with CHD should deliver developmentally appropriate transition education to adolescent and young patients with CHD, and to their Recommendation-Specific Supportive Text 1. Preparing a patient for independent cardiac care is an ongoing process that should start in early ado- lescence if not soonerS3.5-3 and may extend beyond 18 years of age in many patients. The recommen- dation and goals for transition and transition ed- ucation have been described and include verbal, written, and experiential efforts to teach patients and families about their specific heart disease, ex- pectations, and concerns regarding CHD, as well as skills to navigate the healthcare system as an Lack of education about the need for transition and lifelong cardiac care leads to gaps in care that can result in increased hospitaliza- tions, need for urgent intervention, and increased A structured approach to transi- tion education improves health related knowledge This education is a continual process that includes after transfer to an ACHD care provider.S3.5-4 3.6. Exercise and Sports Recommendations for Exercise and Sports Referenced studies that support recommendations are summarized in Online Data Supplement 13. COR LOE Recommendations I C-LD Clinicians should assess activity levels at regular intervals and counsel patients with ACHD about the types and intensity of exercise appropriate to their clinical IIa C-LD CPET can be useful to guide activity recommendations for patients with IIa B-NR Cardiac rehabilitation can be useful to increase exercise capacity in patients with Synopsis Historically, guidelines for physical activity among pa- tients with CHD have focused on restriction, rather than promotion of activity.S3.6-14,S3.6-15 Because of fears of adverse events such as SCD or aortic dissection, rec- ommendations derived from those that apply to com- have been applied to recreational activities despite the absence of evidence on the risk or safety of moderate activity. The 2015 Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force does work toward encouraging participation and shared decision-mak- ing with patients regarding competitive sports partic- ipation. Most patients with ACHD can safely engage in regular, moderate physical activity. A few conditions, such as systemic ventricular systolic dysfunction, sys- temic ventricular outflow tract obstruction, hemody- namically significant arrhythmias, or aortic dilation, warrant more cautious recommendations.S3.6-17 Recommendation-Specific Supportive Text 1. Physical activity is widely recognized as being ben- eficial to the physical and mental health of those There is conflicting evi- dence regarding physical activity levels in patients with CHD, with some suggesting the tendency for less activityS3.6-5,S3.6-9 and a greater prevalence than in the general population. Studies describe the beneficial effects and safety of exercise programs for patients across the spec- trum of CHD.S3.6-18,S3.6-19 Activity recommendations should be individualized based on the patient s clinical status and their interests.S3.6-20 2. There is evidence that exercise capacity varies among congenital heart defects, with declining capacity (generally) as complexity increases.S3.6-10,S3.6-11 Knowledge of the typical exercise capacity for patients with a specific lesion is im- portant when making appropriate activity Self-directed activity is usually at 40% to 60% of maximal exercise ca- pacity, whereas fitness training occurs at 60% to Exercise capacity is defined in relation to maximal oxygen con- sumption. The writing committee recognizes that not all ACHD centers will have the resources to conduct CPET, which is the preferred method of evaluation. If CPET cannot be performed, other exercise tests using an established treadmill or bicycle ergometer protocol are an acceptable al- ternative for assessing exercise capacity, recogniz- ing that valuable information may be unavailable compared with CPET. 3. As with other populations of cardiac patients, in- activity leads to reduced exercise performance. Regular exercise and cardiac rehabilitation may improve exercise capacity and HF symptoms, and ought to be encouraged.S3.6-6,S3.6-7,S3.6-21,S3.6-22 CLINICAL STATEMENTS AND GUIDELINES 3.7. Mental Health and Neurodevelopmental Issues Recommendations for Mental Health and Neurodevelopmental Issues Referenced studies that support recommendations are summarized in Online Data Supplement 14. COR LOE Recommendations I B-NR Patients with ACHD should be evaluated for depression and anxiety.S3.7-1 S3.7-3 IIa B-NR Referral for mental health evaluation and treatment is reasonable in patients with IIb B-NR Neurodevelopmental or neuropsychological testing may be considered in some patients with ACHD to guide therapies that enhance academic, behavioral, psychosocial, and Synopsis Mental health and neurodevelopmental issues are com- mon in patients with ACHD and may significantly affect QoL. Neurodevelopmental abnormalities are more fre- quently seen in children who have complex disease, com- plex surgical repairs, and other characteristics.S3.7-10 S3.7-12 There is extensive literature in the pediatric population on the frequency and importance of neurodevelopmen- tal abnormalities, However, many adults may not have been evaluated as children in accordance with current diagnostic and treatment strategies.S3.7-13,S3.7-14 Neurode- velopmental disorders, such as impairment of cognition, social skills and communication, and attention disorders, are often underrecognized even though appropriate di- agnosis, treatment, and rehabilitation may be beneficial in optimizing function and QoL. An AHA scientific state- ment describes the common neurodevelopmental disor- ders affecting children with CHD and may inform neu- rodevelopmental issues related to adults with CHD.S3.7-13 Recommendation-Specific Supportive Text 1. Anxiety and depression are underrecognized in the ACHD population. Point-of-care assessment with simple questions about anxiety and depres- sion should be included in the symptom review. 2. Anxiety and depression are prevalent among patients with ACHD. Self-reported symptoms are incomplete to identify the existence of mood disorders. Structured professional psychological evaluation can identify up to 50% more patients with mood disorders.S3.7-1 3. Although there is limited evidence on neuro- developmental and neuropsychological issues in patients with ACHD, there is increasing evi- dence of the neurodevelopmental impact of CHD and surgery in childhood.S3.7-6,S3.7-8,S3.7-9 It is likely that this impact will persist into adulthood and may manifest in lower educational and occupa- tional achievement. This is particularly evident in patients with genetic conditions such as 22q11 deletion and trisomy 21. 3.8. Endocarditis Prevention Patients with ACHD have an increased risk of develop- ing infective endocarditis (IE).S3.8-1,S3.8-2 The most com- mon pathogens responsible for IE include Streptococ- cus viridans, Staphylococcus species, and Enterococcus species. Despite advances in antimicrobial therapy and surgical techniques, IE remains a condition associated with significant morbidity and mortality. Numerous guidelines are available with recommendations on the prevention and diagnosis of IE.S3.8-3 S3.8-5 These guidelines include consistent descriptions of the patients at high- est risk of adverse effects from endocarditis. Antibiotic prophylaxis continues to be recommended for patients with high-risk characteristics, which are often found in patients with ACHD.S3.8-2 These patients include: Those with previous IE; Patients with prosthetic valves (biological and me- chanical, surgical and transcatheter); Patients within 6 months of placement of pros- thetic material; Patients with residual intracardiac shunts at the site of or adjacent to previous repair with pros- thetic material or devices; or Patients with uncorrected cyanotic heart disease. See Online Data Supplement 15 for referenced studies. 3.9. Concomitant Syndromes Recommendation for Concomitant Syndromes Referenced studies that support the recommendation are summarized in Online Data Supplement 16. COR LOE Recommendation IIa B-NR Genetic testing for 22q11 deletions is reasonable for patients with conotruncal Synopsis Patients with genetic syndromes may have phenotypic manifestations and associated CHD as clinical features of the genetic abnormality. An underlying chromoso- mal abnormality exists in at least 10% of infants with CHD and may not have been previously tested in pa- tients with ACHD.S3.9-3 Clinicians caring for patients with ACHD should recognize the potential for undiagnosed genetic abnormalities that may affect overall health (Table 10) and pursue appropriate evaluation. CLINICAL STATEMENTS AND GUIDELINES Recommendation-Specific Supportive Text Several forms of CHD may be associated with un- derlying genetic syndromes (Table 10). Some ge- netic syndromes may not be phenotypically appar- ent in adults, and prior childhood genetic workup may not be readily available; therefore, genetic syndromes may be missed in patients with ACHD. Many of these syndromes may have important clinical comorbidities, including but not limited to learning disabilities, psychiatric conditions, and re- productive disorders. Up to 5% of children born with CHD have DiGeorge syndrome (22q11.2 dele- tion), the congenital heart defects most commonly associated being those of conotruncal origin. Di- George syndrome is an autosomal dominant con- dition. Therefore, genetic testing is reasonable for patients with ACHD with conotruncal defects for recognition and management of comorbidities and for counseling on the potential risk of recurrence in 3.10. Acquired Cardiovascular Disease Patients with ACHD can acquire other cardiovascular diseases such as hypertension, atherosclerotic coronary artery disease, vascular disease, stroke, and HF.S3.10-1 S3.10-3 The impact of acquired heart disease is increasing as the lifespan of patients with ACHD extends. Myocardial infarction is one of the leading contributing causes of death for late surviving adults with acyanotic CHD.S3.10-4 Major adverse cardiac events, such as HF, percutaneous coronary intervention, coronary artery bypass graft sur- gery, malignant arrhythmia, cardiac shock, and place- ment of an implantable cardioverter-defibrillator (ICD), are also quite prevalent.S3.10-5,S3.10-6 Overall, cardiovascular reasons account for approximately 77% of all deaths in patients with ACHD, with approximately half attributable to chronic HF.S3.10-7 Evaluation for acquired cardiac condi- tions is warranted in patients with risk factors, although results of testing (eg, stress perfusion studies) should account for preexisting abnormalities caused by CHD, recognizing prior interventions can mimic abnormalities otherwise suggestive of acquired heart disease.S3.10-8 In patients with ACHD, prevention and treatment of conditions predisposing to acquired cardiovascular di- sease such as diabetes mellitus, obesity, hypertension, dyslipidemia, and/or similar comorbidities are impor- tant. Given the increased risk of acquired cardiovas- cular disease with age, promoting a healthy lifestyle is important in all patients with ACHD, although there are not data demonstrating the effects of risk reduction on clinical outcomes specific to the ACHD population. Emphasizing the importance of daily physical activity according to functional capacity, and decreasing sed- Table 10. Underlying Genetic Syndromes Commonly Associated With CHDS3.9-4,S3.9-6 Syndrome Genetic Abnormality Clinical Features Common Cardiac Findings DiGeorge syndrome (velocardiofacial syndrome) 22q11.2 deletion Thymic and parathyroid hypoplasia, immunodeficiency, low-set ears, hypocalcemia, speech and learning disorders, renal anomalies, psychiatric disease IAA type B, aortic arch anomalies, truncus arteriosus, TOF 25% 75% have CHD, depending on age studiedS3.9-7,S3.9-8 Down syndrome Trisomy 21 Developmental disability, characteristic facial features, hypotonia, palmar crease ASD, VSD, AVSD, TOF 40% 50% have CHD TBX5 Upper limb skeletal abnormalities ASD, VSD, MV disease 75% have CHD Klinefelter syndrome 47 XXY Tall stature, hypoplastic testes, delayed puberty, developmental disability PDA, ASD, MV prolapse 50% have CHD RAF1, NRAS, BRAF, Facial anomalies, webbed neck, chest deformity, short stature, lymphatic abnormalities, bleeding abnormalities PS, ASD, HCM 80% have CHD Turner syndrome 45X Short stature, webbed neck, lymphedema, primary amenorrhea Coarctation, BAV, aortic stenosis, hypoplastic left heart, ascending aortopathy 30% have CHD Risk of aortic dissection Williams syndrome 7q11.23 deletion Elfin face, social personality, hearing loss, developmental delay, infantile hypercalcemia Supravalvar aortic stenosis, peripheral PS 50% 80% have CHD ASD indicates atrial septal defect; AVSD, atrioventricular septal defect; BAV, bicuspid aortic valve; CHD, congenital heart disease; HCM, hypertrophic cardiomyopathy; IAA, interrupted aortic arch; MV, mitral valve; PDA, patent ductus arteriosus; PS, pulmonary stenosis; TOF, tetralogy of Fallot; and VSD, ventricular septal defect. CLINICAL STATEMENTS AND GUIDELINES entary behavior as appropriate for the patient s clinical status is essential when counseling patients with con- genital heart defects.S3.10-9 Interestingly, most patients with ACHD lead healthier lifestyles compared with con- suggesting that this patient popula- tion may be receptive to advice and may continue to benefit from recommendations about diet, activity, and modifiable risk factors. See Online Data Supplement 17 for referenced studies. 3.11. Noncardiac Medical Issues Recommendation for Noncardiac Medical Issues Referenced studies that support the recommendation are summarized in Online Data Supplement 18. COR LOE Recommendation I C-LD Patients with ACHD at risk for hepatitis C should be screened and vaccinated for viral hepatitis and treated as appropriate.S3.11-1 Recommendation-Specific Supportive Text 1. Patients with ACHD are at risk of hepatitis C be- cause of blood exposure during cardiac surgery. Hepatitis screening is warranted especially in those with exposure to blood products before universal screening for hepatitis C, which began in 1992. Hepatitis vaccination and/or consultation with a hepatologist should also be offered where ap- propriate, particularly in patients with ACHD with concomitant liver disease (eg, Fontan patients). 3.12. Noncardiac Surgery Recommendations for Noncardiac Surgery Referenced studies that support recommendations are summarized in Online Data Supplement 18. COR LOE Recommendations I C-LD Optimization before and close surveillance after invasive procedures, regardless of the complexity of the anatomic defect or type of procedure is beneficial for patients with I B-NR In patients with ACHD AP classification IB-D, IIA-D, and IIIA-D* noncardiac surgical and interventional procedures should be performed in a hospital with or in consultation with experts in ACHD when *See Tables 3 and 4 for details on the ACHD AP classification system. Synopsis Patients with ACHD may have greater operative risk than patients without ACHD. The 2014 ACC/AHA Guideline on Perioperative Cardiovascular Evaluation and Management of Patients Undergoing Noncardiac may be applied; however, those guide- lines may not apply directly. One must remain cognizant that there are differences in cardiac issues commonly present in patients with ACHD, such as mechanisms for ventricular dysfunction, type and mechanisms of arrhythmia, and the probability of coronary artery di- was developed prima- rily with evidence and experience derived from, and re- lated to, patients with acquired heart disease. Thus, the evidence supporting recommendations regarding risk indices and management strategies may not apply to many patients with ACHD. Recommendation-Specific Supportive Text 1. A checklist of issues to consider in the assess- ment and management of patients with ACHD undergoing noncardiac surgery is presented in Table 11. Patients with ACHD may present with nonroutine and unusual physiological challenges (eg, those related to fluid balance in the setting of single ventricle or the impact of vascular resistances on shunts in cyanotic Heightened surveillance may mandate extended postoperative intensive or other high-acuity care.S3.12-2 2. Case series and analysis of administrative databases confirm that surgical procedures in patients with ACHD carry greater risk than in patients without Risk relates to the specific type of ACHD, surgical procedure, urgency of intervention, and availability of specialized Noncardiac surgery is usually accomplished without substan- tial morbidity or mortality, but even minor sur- gery can be complicated in patients with ACHD. Surgery that is low risk in the general population may be associated with higher risk in the ACHD Patients with ACHD may present with nonroutine and unusual physiolog- ical challenges (eg, those related to fluid balance in the setting of single ventricle or the impact of vascular resistances on shunts in cyanotic When possible, patients with ACHD, especially those with complex disease (ACHD AP classifica- tion II and III) and/or whose disease has progressed (stages B, C, D) (Tables 3 and 4), should receive preoperative evaluation and surgery or other non- surgical intervention within an ACHD program. Because the inability to access resources or urgent conditions may preclude transfer or timely consul- tation, collaboration with members of the mul- tidisciplinary ACHD team may be helpful. Clear CLINICAL STATEMENTS AND GUIDELINES processes for timely consultation and support are needed to manage the physiological challenges presented by patients with ACHD related to fluid balance, vascular resistance, and shunts.S3.12-3,S3.12-4 A checklist of issues to consider in assessment and management of patients with ACHD undergoing noncardiac surgery is presented in Table 11. 3.13. Pregnancy, Reproduction, and Sexual Health Recommendations for Pregnancy Referenced studies that support recommendations are summarized in Online Data Supplement 19. COR LOE Recommendations I C-LD Women with CHD should receive prepregnancy counseling with input from an ACHD cardiologist to determine maternal cardiac, obstetrical and fetal risks, and potential long-term risks to the I C-LD An individualized plan of care that addresses expectations and contingencies should be developed for and with women with CHD who are pregnant or who may become pregnant and shared with the patient and all I B-NR Women with CHD receiving chronic anticoagulation should be counseled, ideally before conception, on the risks and benefits of specific anticoagulants during I B-NR Women with ACHD AP classification IB- D, IIA-D, and IIIA-D* should be managed collaboratively during pregnancy by ACHD cardiologists, obstetricians, and anesthesiologists experienced in I C-EO In collaboration with an ACHD cardiologist to ensure accurate assessment of pregnancy risk, patients at high risk of maternal morbidity or mortality, including women with pulmonary arterial hypertension (PAH), Eisenmenger syndrome, severe systemic ventricular dysfunction, severe left-sided obstructive lesions, and/or ACHD AP classification ID, IID, IIID* should be counseled against becoming pregnant or be given the option of terminating pregnancy. I B-NR Men and women of childbearing age with CHD should be counseled on the risk of CHD recurrence in offspring.S3.13.1-9 IIa B-NR Exercise testing can be useful for risk assessment in women with ACHD AP classification IC-D, IIA-D, and IIIA-D* who are considering pregnancy.S3.13.1-10,S3.13.1-11 IIa B-NR When either parent has CHD, it is reasonable to perform fetal *See Tables 3 and 4 for the ACHD AP classification system. Synopsis Most data regarding cardiac and obstetric risk to women with CHD during pregnancy derive from ret- rospective case series.S3.13.1-2 S3.13.1-5,S3.13.1-8,S3.13.1-10,S3.13.1-12, Many women with CHD considering pregnancy may have received inconsistent guidance regarding pregnancy risks.S3.13.1-21 Several risk scores have been developed to risk-stratify women with heart disease desiring pregnancy,S3.13.1-2,S3.13.1-7 and a prospective Table 11. ACHD Management Issues for Noncardiac Surgery Clarify CHD diagnosis Clarify prior procedures, residua, sequelae, and current status, including ACHD AP classification Be aware that history obtained from only the patient and family may be faulty or incomplete Obtain and review old records to ensure accurate understanding of past procedures and clinical course Complete additional investigations required to define ACHD AP classification Develop management strategies to minimize risk and optimize outcome Factors associated with increased risk of perioperative morbidity and : Cyanosis Congestive HF Poor general health Younger age Pulmonary hypertension Operations on the respiratory and nervous systems Complex CHD Urgent/emergency procedures Issues to consider: Endocarditis prophylaxis Complications related to underlying hemodynamics Abnormal venous and/or arterial anatomy affecting venous and arterial access Persistent shunts Valvular disease Arrhythmias, including bradyarrhythmias Erythrocytosis Pulmonary vascular disease Meticulous line care (also consider air filters for intravenous lines) to reduce risk of paradoxic embolus in patients who are cyanotic because of right-to-left shunts Adjustment of anticoagulant volume in tubes for some blood work in cyanotic patients Prevention of venous thrombosis Monitoring of renal and liver function Periprocedure anticoagulation Possible need for nonconventional drug dosing Increased prevalence of hepatitis C infection because of prior procedures and remote blood transfusions Developmental disability ACHD indicates adult congenital heart disease; AP, anatomic and physiological; CHD, congenital heart disease; and HF, heart failure. CLINICAL STATEMENTS AND GUIDELINES validation study suggests that the World Health Orga- nization classification is the most accurate prediction Although many women with CHD tol- erate the hemodynamic changes of pregnancy, others may face significant immediate or late risks of preg- nancy including volume overload, arrhythmias, pro- gressive cardiac dysfunction, and death. Cardiac medi- cations may need to be adjusted during pregnancy and counseling provided to discuss the options for and potential impact of those changes. Some specific com- plications may be more common in women with cer- tain types of CHD, such as hypertension, which is more common in women with coarctation.S3.13.1-22,S3.13.1-23 The offspring of patients with ACHD have an increased risk of CHD and other events such as prematurity.S3.13.1-24 All women with CHD should receive appropriate counsel- ing regarding contraception choices. A multidisciplinary team that includes ACHD specialists and maternal-fe- tal medicine obstetricians with expertise in caring for women with heart disease is appropriate for achieving optimal outcomes. Recommendation-Specific Supportive Text 1. Prepregnancy counseling allows for an individu- alized risk assessment. This will include discuss- ing maternal risks for pregnancy, delivery, and postpartum period, and medications that may be teratogenic and require alternative therapies (eg, angiotensin-converting enzyme inhibitors/ angiotensin-receptor blockers). Additionally, counseling should include a discussion related to fetal risk in regard to CHD transmission and overall risk to the health of the fetus. ACHD car- diologists are valuable in accurately assessing pregnancy risks. Risk may be overestimated or underestimated by providers without expertise in CHD and pregnancy, leading to patients re- ceiving inaccurate recommendations on risks of pregnancy, risks of delivery, and the type of de- livery (eg, the incorrect notion that most women with CHD require cesarean delivery for cardiac reasons). 2. This care plan should address maternal cardiac risks on the basis of the individual patient s anatomy and physiology. Clear documenta- tion is important so that all providers are well aware of the risks and expected outcomes, in- cluding risk of maternal volume shifts, arrhyth- mias, labor and delivery plan, and need for maternal cardiac monitoring when indicated. Contingency plans for anticipated complica- tions related to the presence of CHD should also be developed. 3. Chronic anticoagulation during pregnancy is as- sociated with increased risk of maternal bleed- ing and thrombotic events as well as a higher risk of fetal loss, and in the case of warfarin, the risk of teratogenicity.S3.13.1-5,S3.13.1-14 The choice of specific anticoagulant must balance maternal well-being and risks for mother and fetus, and should be individualized. Patients with me- chanical valves should be treated according to 4. The hemodynamic changes of pregnancy, labor, and delivery can result in hemodynamic decom- pensation for some women with CHD.S3.13.1-1, Management involving the expertise of ACHD, maternal-fetal medicine, and anesthesiology should help anticipate and miti- gate some of the potentially detrimental maternal or fetal outcomes. 5. Women at high risk include, but are not limited to, those diagnosed with cardiac conditions that meet World Health Organization maternal cardiac risk classification IV.S3.13.1-26 a. PAH of any cause b. Severe systemic ventricular dysfunction: LV ejection fraction <30% and/or NYHA III IV symptoms c. Severe left heart obstruction d. Severe native coarctationS3.13.1-16,S3.13.1-27,S3.13.1-28 These patients have an extremely high risk of maternal mortality or severe morbidity, and if pregnant, the option of pregnancy termina- tion should be discussed 6. Prepregnancy counseling regarding the risk of CHD recurrence in offspring provides helpful in- formation to parents to inform decision-making regarding family planning and delivery options, and should allow adequate time dedicated to answering important questions from the parents. 7. CPET performed before conception can predict maternal and neonatal outcomes in pregnant women with CHD. A blunted heart rate response to exercise in women with CHD is associated with a higher risk of maternal cardiac and neonatal 8. If the patient with CHD or their partner is preg- nant, there is an increased risk of CHD in the off- spring and fetal echocardiography can be useful in defining whether CHD is present, and if so, help to determine the course of action at the time of delivery. There are data to suggest a prenatal diagnosis improves neonatal survival, although selection bias (eg, preoperative deaths, family preference) is a limitation for many studies, so benefit has been more difficult than expected to CLINICAL STATEMENTS AND GUIDELINES Recommendations for Contraception Referenced studies that support recommendations are summarized in Online Data Supplement 20. COR LOE Recommendations I C-LD Women of childbearing potential with CHD should be counseled about the risks associated with pregnancy and appropriate III: Harm B-NR Estrogen-containing contraceptives are potentially harmful for women with CHD who are at high risk of thromboembolic events (eg, cyanosis, Fontan physiology, mechanical valves, prior thrombotic events, Synopsis The use of contraceptive agents should be balanced a- gainst the risks of pregnancy in every woman with CHD There are no data on the safety of various contraceptive techniques in patients with ACHD. Recommendation-Specific Supportive Text 1. The individualized benefits and risks of each con- traceptive therapy must be determined based on the patient s anatomy and physiology in consulta- tion with a gynecologist. This counseling should include the expected failure rates of contraceptive options and the anticipated maternal and fetal risks of unplanned pregnancy, with these issues revisited on a regular basis. Contraceptive choices include combined hor- monal (estrogen/progesterone) contraception, progesterone-only agents, intrauterine devices, barriermethods,andpermanentsterilization.Low- dose combination oral contraceptive ( 20 mcg of ethinyl estradiol) is an option except in women who are at increased risk of thrombosis.S3.13.2-4 Medroxyprogesterone acetate is a less effective method of contraception, and the potential for fluid retention must be considered.S3.13.2-5 Intra- uterine devices are highly effective methods of contraception; however, women may experience vasovagal reactions at the time of implant. Tubal ligation is generally safe with recognized risks associated with anesthesia and abdominal insuf- flation. An efficacious option is a vasectomy for the male partner; however, the long-term prog- nosis of the female patient with CHD must be considered and discussed openly. In the case of unplanned pregnancy with desire for termination, the morning-after pill (levonorgestrel) is safe for women, but acute fluid retention is a risk to be considered. 2. Women with CHD who are at high risk of throm- bosis include those with cyanosis, Fontan physi- ology, mechanical valves, prior thrombotic events, and PAH. In women who are at high risk of throm- bosis and who receive warfarin, there are no data on which to base a recommendation or coun- seling as to whether it is safe to use estrogen- containing contraception. It is unclear whether the use of warfarin offsets adequately the addi- tional risk of thrombosis related to pregnancy in high-risk patients. 3.13.3. Infertility Treatment Menstrual cycle disorders are not uncommon in women with CHD. In small case series of women with CHD, var- ious causes for infertility were documented including primary and secondary amenorrhea, oligomenorrhea, and uterine anomalies.S3.13.3-1,S3.13.3-2 In more complex forms of CHD (eg, the population with Fontan pallia- tion), the prevalence of primary amenorrhea may be as high as 40%.S3.13.3-2 Menarche occurs at an older age in these women than in the general population.S3.13.3-2 Women with CHD also have higher rates of spontane- ous abortion and miscarriage.S3.13.3-3 S3.13.3-5 The preva- lence of infertility in men with CHD is unknown. Each patient with ACHD should be counseled regarding the potential for infertility and referral to a specialized re- productive endocrinologist when appropriate, although there is little specific guidance for women based on types of CHD. Alternative options for family planning including assisted reproductive technologies and adop- tion is appropriate, and risks versus benefits of all op- tions are addressed during counseling. 3.13.4. Sexual Function Sexuality is an important element of QoL. Although there are data that sexual function is a concern in both women and men, there is minimal evidence on the prevalence of sexual concerns among adults with CHD and far less to guide interventions.S3.13.4-1 Concerns with sexual health are present in 20% to 40% of men with CHD.S3.13.4-2 S3.13.4-4 Erectile dysfunction is reported by up to 42% of men with CHD.S3.13.4-1,S3.13.4-3 Men with CHD report being in sexual relationships sig- nificantly less often than the general population.S3.13.4-1, Among men with CHD who report sexual health concerns, there is a high level of psychological dis- tress and diminished QoL.S3.13.4-1,S3.13.4-2,S3.13.4-4,S3.13.4-5 The ACHD provider should be mindful of this often-unspoken concern and create an environment in which the patient feels comfortable addressing concerns about their sexuality. See Online Data Supplement 21 for referenced studies. CLINICAL STATEMENTS AND GUIDELINES 3.14. Heart Failure and Transplant 3.14.1. Heart Failure Recommendation for Heart Failure Referenced studies that support the recommendation are summarized in Online Data Supplement 22. COR LOE Recommendation I C-LD Consultation with ACHD and HF specialists is recommended for patients with ACHD and HF or severe ventricular Synopsis HF is a significant issue in patients with ACHD. It is com- mon, associated with morbidity and mortality, and is anticipated to increase in prevalence. However, despite the clinical importance of HF in patients with ACHD and efforts to study the effects of medication and device therapy in these patients, there are no data to support treatment recommendations. For patients with biven- tricular physiology, systemic left ventricular (LV) dys- function, no repairable residual hemodynamic abnor- malities, and persistent HF symptoms, standard GDMT is ostensibly preferable to no treatment. However, ex- pectations of its benefit should be tempered, and risk may be different in patients with acquired CVD, be- cause CHD patients have not been included in the trials by which those guidelines were developed. Recommendation-Specific Supportive Text 1. HF is common in patients with ACHD and is associ- ated with increased morbidity and mortality.S3.14.1-1 There are many causes of HF symptoms that may be reversible, including valve dysfunc- tion, shunts, arrhythmias, venous obstruction, and systolic and/or diastolic ventricular dysfunction, which require evaluation and treatment when possible. Unlike acquired HF, and despite the clin- ical importance of HF in ACHD, data to support a treatment recommendations including typical HF medical therapy (eg, angiotensin-converting enzyme inhibitors, angiotensin-receptor blockers, beta blockers, and aldosterone antagonists)S3.14.1-5 are limited in patients with ACHD.S3.14.1-6 S3.14.1-22 HF in patients with ACHD is multifactorial and may manifest as variable response to pharmacotherapy. Advanced HF therapies may be technically difficult or considered too late in the course. Thus, timely evaluation by ACHD and HF specialists is crucial to optimal care of such patients. 3.14.2. Heart Transplant Because of the prevalence of HF among patients with CHD, heart transplantation is increasingly being con- sidered as a therapeutic option. Data on proper timing of transplantation are limited, particularly for individual lesions. Larger studies based on transplant databases do not allow for analysis based on the type of CHD.S3.14.2-1 Currently, patients with ACHD may have fewer mechanical circulatory devices (eg, ventricular-assist devices), which may lower their listing status and hence potential for organ receipt.S3.14.2-1,S3.14.2-2,S3.14.2-4 S3.14.2-7 Although specific criteria for timing of referral for transplantation are desirable, universal recommendations cannot be made based on current data. Generally, pub- lished data show that immediate and early posttransplan- tation risk is higher in ACHD than in acquired heart di- sease because of increased perioperative mortality.S3.14.2-2 However, once beyond the perioperative period, patients with ACHD do as well as or better than those with ac- quired heart disease, with expected 10-year survival e- quivalent to or better than that of patients without Risks for poor outcomes include single ventricle anatomy, anatomic complexity, protein-losing enteropathy, or high titers of panel reac- The current allocation system puts patients with ACHD at a disadvantage. Rather than priority dictated by the usual accepted risk markers, pa- tients with ACHD are often listed by exception, a pro- cess that requires the clinician to argue that the patient warrants higher priority than would be evident by apply- ing the used risk markers. There is also significant mortal- ity for patients with ACHD while on the waitlist.S3.14.2-10, Surgical alternatives to transplantation exist for some patients with CHD (eg, valve replacement, shunt closure), but these patients are at high risk of periopera- Ideally, providers will consider early referral to a transplant center with expertise in ACHD transplantation when transplantation becomes a relevant clinical consideration. Additionally, it is advisable to con- sider options for transplantation or ventricular assist de- vice as a backup before other high-risk surgery is pursued. See Online Data Supplement 23 for referenced studies. 3.14.3. Multiorgan Transplant Recognizing the vulnerability of many organ systems in patients with CHD, multiorgan transplantation is often considered, although infrequently performed. Multi- organ transplantation requires a multidisciplinary and comprehensive approach with thoughtful planning and communication among practitioners. Multiorgan transplantation may be performed as se- quential operations or as a single operation. Typically, simultaneous multiorgan procedure in patients with CHD will be heart-lung transplantation for conditions that result in irreversible pulmonary hypertension such as Eisenmenger syndrome.S3.14.3-1,S3.14.3-2 Fewer than 100 heart-lung transplants are performed internationally each year, with a median survival of 3.3 years and 10-year survival of 32%.S3.14.3-3 Survival is worse for heart-lung recipients than single-organ heart or lung recipients pos- sibly, in part, because of longer wait times.S3.14.3-4 CLINICAL STATEMENTS AND GUIDELINES The occurrence of simultaneous heart-liver trans- plantation is an option in patients with severe right-sid- ed HF and in single ventricle patients after Fontan palli- ation. Given the recognized vulnerability of the liver to injury in Fontan patients and the fact that heart alone transplantation outcomes have been poor in patients with concomitant liver dysfunction, transplant centers may favor heart-liver transplantation in those with cir- rhosis, but this policy is not universal. Fewer than 15 such procedures are performed annually in the United States, and approximately 20% of patients are referred because of underlying CHD.S3.14.3-5,S3.14.3-6 Consequently, experience with these procedures is limited,S3.14.3-5,S3.14.3-7 and heterogeneity makes generalizability difficult. Data are insufficient to support recommendations. For all patients, survival mimics that for liver transplantation Outcomes in Fontan patients with or without cirrhosis are not necessarily different in those who receive heart transplantation alone.S3.14.3-5, Multicenter data gathering on patients con- sidered for multiorgan transplantation are needed to inform future recommendations for these therapies. 3.15. Palliative Care Recommendation for Palliative Care Referenced studies that support the recommendation are summarized in Online Data Supplement 24. COR LOE Recommendation IIa B-NR Discussion of end-of-life issues and advance directives can be beneficial for patients with ACHD or their surrogates.S3.15-1 S3.15-3 Recommendation-Specific Supportive Text 1. Patients with ACHD sometimes have significant morbidities not amenable to effective medical or surgical treatment and may be best managed using the consultative expertise of palliative care special- ists. Accurate predictions of prognosis in ACHD are difficult, and patients commonly receive aggressive treatments during their terminal admission.S3.15-4 There is a discrepancy between patient-reported in- terest in discussing advance directives and physician- reported discussions, with more patients interested in such discussions than recognized by providers.S3.15-1, Early discussion of advance planning is favored by nearly twice as many patients as physicians.S3.15-3 Early discussion of end-of-life issues is consistent with patient-centered care and patient satisfaction and can facilitate palliative care. Although discuss- ing end-of-life options would seem appropriate for all patients, there are circumstances (eg, cultural or cognitive) when those conversations may not be appropriate. Similarly, although the goal is not to wait to discuss end-of-life until death is imminent, such discussion may not have the same benefit for young patients who are clinically well with low-risk disease. Thus, it is important to always have and en- courage the option to discuss end-of-life issues, but timing of conversation is individualized. The definition of cyanosis is blueish discoloration of the skin and/or mucous membranes resulting from inade- quate oxygenation of the blood. Generally, for cyanosis to be visible, at least 5 g/L of unsaturated hemoglobin in tissue is needed.S3.16-1 Anemia may result in hypoxe- mia that is not manifest as cyanosis. In this guideline, cyanosis is used as a generic term to identify hypox- emia caused by right-to-left shunting of blood, but not all hypoxemic patients will be visibly cyanotic at all times. Cyanotic heart disease encompasses a widely hetero- geneous group; therefore, an individualized approach is needed for each patient according to the clinical details. Secondary erythrocytosis (a physiological increase in red blood cell mass in response to hypoxemia) and polycythe- mia (a neoplastic proliferation of hematopoietic cells in- cluding the red blood cell line) are fundamentally different conditions that require different treatments. In secondary erythrocytosis, the patient s own homeostatic processes generally direct achievement of an optimal level of red cell mass, estimated by hemoglobin and hematocrit.S3.16-2 Iron deficiency is frequently encountered in cyanotic In addition to contributing to symp- toms, iron deficiency causes a reduction of hemoglobin without a proportional change in hematocrit and thus compromises systemic oxygen transport without lower- Symptoms mimic those of hyperviscos- ity. Consequences of iron deficiency may include stroke and myocardial ischemia,S3.16-4 S3.16-6 although published findings are inconsistent. Iron deficiency requires assess- ment of serum iron, ferritin, and transferrin levels, be- cause mean corpuscular volume is not a reliable screen- Limited data suggest that treatment of transferrin saturation <20% with iron supplementation until iron stores are replete can be done safely.S3.16-8 Although there is an exponential relationship be- tween viscosity and hematocrit, available data do not justify a cut point for a safe hematocrit.S3.16-3 There is no clear correlation between viscosity, iron deficiency, and a patient s symptoms or clinical condition.S3.16-3 The nature and cause of hyperviscosity symptoms are not well understood. The severity and frequency of symp- toms of hyperviscosity do not correlate with measured hematocrit. Phlebotomy is, therefore, rarely necessary in patients with secondary erythrocytosis, and routine phlebotomy is not supported by data. Patients with suspected hyperviscosity need to be rehydrated either CLINICAL STATEMENTS AND GUIDELINES with oral fluids or intravenous normal saline solution as a first-line therapy, evaluated for iron deficiency, and treated if appropriate. Phlebotomy (with equal volume fluid replacement) is sometimes performed in special cases wherein, after adequate hydration, hematocrit remains higher than the patient s baseline and symp- toms persist, or there is evidence of end-organ damage attributable to hyperviscosity (eg, myocardial ischemia, transient ischemic attack/stroke).S3.16-9,S3.16-10 Observational studies in cyanotic individuals have shown evidence of altered synthesis and function of clotting factors that may contribute to both hypo- and and thrombosis and bleeding (particularly epistaxis or hemoptysis) have been described in patients with Eisenmenger syndrome, which may be life-threatening.S3.16-13 S3.16-15 These dispa- rate trends preclude developing universally applicable recommendations, including use of antiplatelet or an- ticoagulant therapy in these patients.S3.16-16 Similarly, there is not a clear role for preoperative phlebotomy to improve coagulation properties. Cyanotic heart disease is a multisystem disorder. Manifestations, in addition to those already discussed, include renal dysfunction, gout, infections, and osteoar- thropathy. Alterations can be found of myocardial,S3.16-17, and retinal blood flow,S3.16-20 and Providers should recognize mul- tiorgan susceptibility and avoid treatments that may have adverse noncardiac effects. Additional practices that may contribute to effective management of cya- notic patients are listed in Table 12. See Online Data Supplement 25 for referenced studies. 3.17. Pharmacological Therapy for ACHD Patients with ACHD are commonly excluded from clin- ical trials, and there are few data to guide pharma- cological therapies. Although it may be tempting to extrapolate from management guidelines developed for patients without CHD (eg, HF guidelines),S3.17-1 treatments may not have the same benefit in the het- erogeneous population of patients with ACHD and in some cases may cause harm. The evaluation of new symptoms in a patient with ACHD must be tailored to the patient s anatomy, surgical repair, and physiol- ogy. Before considering pharmacological therapies, e- valuation for residual shunts, baffle stenosis, valvular or conduit dysfunction, and collateral vessels, any of which may be amenable to interventions, is an impor- tant consideration. The literature documenting pharmacological thera- pies for patients with ACHD is limited to small studies with limited duration of drug administration and fol- low-up. Additionally, the endpoints used are often sur- rogate markers that have not been validated for clinical decision-making, and studies are also often underpow- ered. However, studies in patients with ACHD do exist and evaluate conventional pharmacological therapy, es- pecially for HF and for arrhythmia, including beta block- ers, angiotensin-converting enzyme inhibitors, angio- tensin-receptor blockers, and aldosterone antagonists, although results vary.S3.17-2 S3.17-9 Pharmacological therapies in patients with ACHD are often directed to specific conditions (ie, beta block- ers for arrhythmia treatment). However, there are lim- ited data examining the benefits of beta blockers in specific ACHD populations. Results from a small study indicate that beta-blocker therapy may have potential to improve functional class in patients with a systemic right ventricle and a pacemaker.S3.17-2 Angiotensin- converting enzyme inhibitors and angiotensin-recep- tor blockers have also been assessed in small studies in specific ACHD populations in which no significant benefit on ventricular function or exercise capacity has Data from 1 small trial with a short follow-up interval in patients with a systemic right ventricle suggest that eplerenone may be associ- ated with reduced myocardial fibrosis, as assessed by Some pharmacological therapies affecting the pul- monary vasculature (eg, endothelin-receptor antago- nists and phosphodiesterase type-5 [PDE-5] inhibitors) Table 12. Specific Management Practices for Cyanotic CHD Recording clinical oxygen saturation at rest (>5 min) rather than immediately after effort (eg, walking into a clinic examination room). Meticulous intravenous care to avoid air or particulate matter, which may include use of air/particulate filters on all intravenous access lines, when feasible, and careful de-airing of all lines. Cerebral imaging for any new headache or neurologic sign to assess for possible cerebral abscess, hemorrhage, or stroke. Measurement of serum uric acid and treatment with allopurinol in a patient with a history of gout. Supplemental oxygen as needed for symptom relief but not to a target oxygen saturation level and not if there is no demonstrable symptomatic benefit. Avoidance of or cautious use of therapies that may reduce the patient s hypoxia-mediated drive to ventilation, such as narcotics or, in rare circumstances, excess supplemental oxygen.S3.16-22 Anesthesia by providers with expertise in anesthesia for patients with ACHD for any noncardiac surgery. Non-estrogen containing birth control for women of child-bearing potential (intrauterine device may be a preferred option). Avoidance of birth control entirely is not a safe, acceptable option. Patients can travel safely on commercial airlines without undue risk.S3.16-23 Preflight simulation testing or mandated supplemental oxygen are not usually indicated, although adequate hydration and movement during the flight are appropriate. Measurement of coagulation parameters (eg, activated partial thromboplastin time, international normalized ratio, thrombin time) in a patient with an elevated hematocrit >55% requires adjustment of anticoagulant volume in the blood collection vials to account for reduced plasma volume in the draw.S3.16-24 ACHD indicates adult congenital heart disease and CHD, congenital heart disease. CLINICAL STATEMENTS AND GUIDELINES have a beneficial effect on long-term outcomes in pa- tients with Eisenmenger syndrome.S3.17-10 Similarly, there are limited data on the use of pulmonary vasodilator therapy in Fontan patients, in whom the pulmonary vas- cular resistance may be abnormal.S3.17-11 S3.17-13 Because of the lack of data, clinical recommendations regarding pharmacological therapy for patients with ACHD are unsupported. Individualized care is needed, recognizing the potential benefits and risks of the therapy relative to patient-specific anatomic and physiological issues. See Online Data Supplement 22 for referenced studies. 4. SPECIFIC LESIONS 4.1. Shunt Lesions 4.1.1. Atrial Septal Defect Recommendations for Atrial Septal Defect Referenced studies that support recommendations are summarized in Online Data Supplement 26 and the systematic review COR LOE Recommendations Diagnostic I C-EO Pulse oximetry at rest and during exercise is recommended for evaluation of adults with unrepaired or repaired ASD with residual shunt to determine the direction and magnitude of the shunt. 