Task Force members,
ESC Committee for Practice Guidelines (CPG),
Document Reviewers,
Key Words: Grown-up congenital heart disease Congenital heartdisease Management Specialist centres Organization of care
Table of Contents
Preamble
Guidelines aim to present all the relevant evidence on a particular issue in order to help physicians to weigh the benefits and risks of a particular diagnostic or therapeutic procedure. They should be helpful in everyday clinical decision-making.
A great number of guidelines have been issued in recent years by different organizations-European Society of Cardiology (ESC), American Heart Association (AHA), American College of Cardiology (ACC), and other related societies. By means of links to web sites of National Societies several hundred guidelines are available. This profusion can put at stake the authority and validity of guidelines, which can only be guaranteed if they have been developed by an unquestionable decision-making process. This is one of the reasons why the ESC and others have issued recommendations for formulating and issuing guidelines, which are quoted as a preamble or appendix in the final reports.
In spite of the fact that standards for issuing good quality guidelines are well defined, recent surveys of guidelines published in peer-reviewed journals between 1985 and 1998 have shown that methodological standards were not complied within the vast majority of cases. It is therefore of great importance that guidelines and recommendations are presented in formats that are easily interpreted. Subsequently, their implementation programmes must also be well conducted. Attempts have been made to determine whether guidelines improve the quality of clinical practice and the utilization of health resources. In addition, the legal implications of medical guidelines have been discussed and examined, resulting in position documents, which have been published by aspecific Task Force.
The Committee for Practice Guidelines (CPG) supervises and coordinates the preparation of new Guidelines and Expert Consensus Documents produced by Task Forces, expert groups or consensus panels. The committee is also responsible for the endorsement of these guidelines or statements.
1. Introduction and background
As a result of the success of paediatric cardiology and cardiac surgery over the last three decades, there will shortly be more adults than children with congenital heart disease. Prior to the advent of surgery, less than 20% of children born with congenital heart malformations survived to adult life.1 Now, most deaths from congenital heart disease occur in adults. The new population of patients with congenital heart disease no longer fits within traditional divisions of training and practice, which have separated adult and paediatric cardiology. Adult cardiologists are not equipped to deal with the range and complexity of grown-up patients with congenital heart disease, whereas paediatric cardiologists cannot be expected to manage the many acquired adult diseases in a paediatric medical environment. Up till now, care has been delivered by a number of enthusiastic centres who havemanaged the complex medical, surgical and psychosocial needs of the grown-up patients with congenital heart disease. In most countries, however, an organized system is not yet in place. This is needed for continued provision of excellence in clinical care, accumulation of knowledge about the late outcome of management strategies in childhood (with feedback to paediatric practice) as well as for training.
The lack of information regarding numbers, diagnoses and treatment as well as the regular occurrence of avoidable medical problems in this population is testimony to the deficiencies of the current system. The need to reintegrate paediatric and adult cardiac services, and in particular to provide smooth transition for adolescents is clear.
In 1994, the European Society of Cardiology recognized the need for specialized care of this challenging group of patients by establishing a working group for Grown-Up Congenital Heart Disease (GUCH). Since then, both the size, and complexity of the GUCH population in Europe has continued to increase. In 1996, the Canadian Cardiovascular Society commissioned a consensus conference on adult congenital heart disease and its report has been invaluable in representing state of the art principles of management.2 The American College of Cardiology organized the 32nd Bethesda Conference on care of the adult with congenital disease in 20003 and in 1999, the European Society of Cardiology established this Task Force to evaluate provisions for care for grown-ups with congenital heart disease in Europe and to make recommendations for improvement in organization facilities, training, and research. Members of the Task Force include specialists from Europe and North America who were chosen to provide a broad view of novel information, and to developing the recommendations of previous publications.
In the first part of the Task Force report (sections 16), the special healthcare needs of grown-ups with congenital heart disease are discussed and common principles of management, including transition from paediatrics, the need for the establishment of specialist centres, models of network care delivery and training of medical and non-medical staff are set out. In the second part (), we have provided structured guides for the management of common lesions. These represent a consensus view of the panellists, and where possible, are evidence-based. They are intended to assist the practicing clinician in a user friendly manner. We recognise that there are many valid different approaches and that more robust clinical research is vital to provide evidence-based recommendations in this emerging field. Nevertheless, we believe that our summaries will be helpful and enableclinicians to access useful information at a glance.
This report is intended to promote collaboration between the various professional groups involved in the care of adolescents and adults with congenital heart disease, administrators and those who provide resources for health care. Sustained effort to implement the recommendations of this Task Force will be required in order to bring to full fruition the huge successes achieved in the treatment of congenital heart disease in children over the last three decades. The participants humbly acknowledge the many unresolved issues and uncertainties of grown-up congenital heart disease and are all involved in efforts to improve care for this challenging and rewarding group of patients.
1.1. Size and composition of the GUCH population
Remarkably few data are currently available on the size and composition of the population of grown-ups with congenital heart disease. Healthcare planning and resource allocation has been based largely on estimates of the incidence of congenital heart disease in infancy, survival through childhood together with the number of new cases such as atrial septal defect, coarctation, Ebsteins anomaly or congenitally corrected transposition which may be diagnosed for the first time in childhood, adolescence and adult life. Such estimates were published by the Bethesda Conference, which highlighted the wide confidence intervals of projected numbers.3 It has been difficult to collect real numbers because many patients, even those with complex defects attend non-specialized clinics or are completely lost to follow-up.4 In The Netherlands, for example, it is estimated that there should be approximately 20 000 grown-ups with congenital heart disease but only 8000 are seen in hospital clinics.5
There is an increase not only in the size of the population but also in the proportion of patients with complex lesions. Service planning needs to be based on the numbers of grown-ups with congenital heart disease for whom specialist care is essential. Many patients with simpler lesions (e.g. small ventricular septal defect, repaired atrial septal defects, mild pulmonary stenosis, bicuspid aortic valve) can be managed either exclusively in adult general cardiac units or jointly with the specialist unit. In this report, we have stratified care recommendations into three levels (exclusive follow-up in the specialized unit level 1, shared care with local informed adult unit level 2 and predominantly non-specialist care level 3). The proportion of the total population of grown-ups with congenital heart disease and complex lesions requiring either exclusive specialized care or close interaction with a general adult cardiac clinic (level 1 and 2) has been estimated at 2550%. A recent survey in the North East Region of the United Kingdom has attempted to predict both the number of patients with congenital heart disease who will survive into adulthood as well as the number who will need specialist care. This used data from a 10-year period (19851994) of a congenital heart disease database together with predicted survival of individual lesions from the published literature. When the results were extrapolated to the whole of the United Kingdom, the predicted annual increase in numbers of grown-ups with congenital heart disease was at approximately 1600, with 800 requiring specialized follow-up.6
The number of grown-up congenital heart disease patients with individual lesions depends on the incidence at birth, early mortality in childhood as well as the rate of late death. In the absence of hard figures we have developed a simple programme, which enables prediction of late survival rates by entering estimates for each of these outcome determinants. This is available on the ESC website (Appendix 2) and will be useful for planning of resource requirements and funding. A European survey of the numbers of grown-ups with congenital heart disease has been commissioned by the European Society of Cardiology in 24 countries, but few European countries have the necessary established database.
The establishment of specialized centres to manage the complex grown-up heart disease population is a priority. These centres will provide the basis for research into new areas of cardiology, such as the interaction between congenital and acquired heart problems in older patients. Specialized centres should not disenfranchise local physicians, both in general cardiology and primary care who have an important role in a hierarchical local, regional and supraregional service. This report provides a model for such care delivery, which will need to be modified in each of the different health care systems operating in European countries.
2.1. Transition from paediatric to adult care
The arrangement of transition from the paediatric cardiology clinic to the adult service is a particular challenge.7 Adolescence has no absolute age limits and a degree of flexibility is essential, depending on the intellectual and emotional maturity of the patient as well as other issues such as the presence of coexisting disease.7 A specialisttransition clinic is highly desirable to minimize anxiety for the patient and their families as well as disruption in care provision. This is the first step to the creation of a successful service for the grown-up population with congenital heart disease and the following recommendations can be made:
2.2. Network of specialist centres with models of delivery
2.2.1. An overview of the current situation
The healthcare needs of many grown-ups with congenital heart disease are not currently being met in Europe and elsewhere. Two fundamental impediments to the improvement of their care are:
2.2.2. The beginnings of a solution
Given the shortage of staff with training and expertise in the care of grown-ups with congenital heart disease, improvement must start by developing and employing the skilled personnel needed to lead and help coordinate this work in specialist centres. This process would serve as a focus for excellence in clinical care, as well as enabling training and research.
The specialist unit should be located in an adult medical environment with multi-disciplinary speciality provision and be associated with strong paediatric cardiology groups. Indeed, all specialist centres for paediatric cardiology must have defined care pathways for the appropriate transfer of patients to the grown-up congenital heart disease service. Each specialist centre should serve a population of approximately 510 million people and they should function within their local medical communities. Cardiologists and primary care physicians should be encouraged to establish a referral relationship with the specialist centres, and this should include provision of timely telephone advice, informal consultation, rapid consultant referrals as well as collaboration in patient follow-up (the specialist centre should include cardiologist(s) with training in management of grown-ups with congenital heart disease in a collaborative team including cardiac surgeons, anaesthetists and intensivists). The cardiologist should be familiar with echocardiography (including transoephageal echocardiography) and diagnostic cardiac catheterization and at least one per centre should have experience in interventional catheterization. Access to an electrophysiologist with expertise in arrhythmia management in congenital heart disease, pacemaker insertion, ablation and defibrillator implantation is also essential. Specialist imaging including MRI and CT is required. There should be close links with other specialist departments and, in particular, the provision of a joint service with obstetrics to manage high-risk pregnancies. Access to a cardiac pathologist with an interest in congenital cardiac malformations is also highly desirable. A minimum of two congenital heart surgeons (often shared with paediatric cardiology units) is needed, together with the appropriate anaesthetists and intensive care and surgical teams. An association with a transplant centre should also be established.
Specialist nurses are crucial and often provide the glue that connects the various components, as well as delivering excellence in patient care. All of the unit staff need to work in a dedicated environment with appropriate in-patient and out-patient facilities and a full range of invasive and non-invasive investigational techniques (see below).
2.3. Delivery of patient care
Patients should be transferred to the service for grown-up congenital heart disease with a clear management and follow-up plan, with transfer of appropriate information (see above 2.1). All patients should be seen for initial consultation in the specialist adult cardiac services at least once, to establish a relationship with the team as well as to provide familiarity with the new environment. This process will minimize the number of patients who are lost to follow-up during this key period.
Subsequently, patient follow-up care can be stratified in to three levels:
These levels are used in the care recommendations for individual lesions in of this document.
Patients with congenital heart disease who should be seen within the specialist centre include those with the prospect of premature death, re-operation or complications of their condition and those whose condition is unfamiliar to general cardiologists. Any patient who develops a new clinical problem related to their congenital heart defect should be referred for re-evaluation in the specialist unit. Furthermore, consultation should occur with the specialist unit prior to any intervention in a grown-up with congenital heart disease. A telephone call may be all that is required to avoida disaster during a seemingly innocuous procedure (e.g. non-cardiac surgery in an Eisenmenger patient).
2.3.1. Management recommendations
European representatives of the GUCH Working Group of the ESC have had substantial input into the previously published for the management of these patients prior to this report.2,3 Physicians and patients who are interested in accessing such information may connect to it on www.achd-library.com or access the ESC website (www.escardio.org) for the current Task Force recommendations. These provide point-to-point summaries of the major conditions including management recommendations and supporting references. Recruitment and training efforts to build professional teams who will become regional anchors of care should be begun without delay, in order to address the manpower shortage of adequately trained and experienced experts in this field.
3. Training of practitioners in grown-up congenital heart disease
Despite the fact that many European national training guidelines for cardiology recognise the need for training in congenital heart disease, most cardiologists have virtually no experience or understanding of management of grown-ups with congenital heart disease. Most units, therefore, rely on an extended role for paediatric cardiologists who work in conjunction with interested adult cardiology colleagues. There is an urgent need to improve this situation by defining and implementing educational requirements for a workforce to staff specialized units for the growing population of adult patients. Appropriate specialist cardiologists may come from trainees in paediatric cardiology or adult cardiology. They should have the following knowledge and skills:
In the specialist centre, there may be advantages to training individuals from both paediatric and adult backgrounds, to facilitate smooth transition of care for the younger patients as well as provide good care for acquired problems in the older patients.
Efforts are being made in several countries to define training programmes for specialists in the care of grown-ups with congenital heart disease. The following is proposed for trainees from paediatric cardiology:4
The specific requirements for training are familiarity with:
For the trainee from the adult cardiological background, training recommendations are:
Specific requirements for training are:
It is envisaged that the specialist in grown-up congenital heart disease will share care with cardiologists in non-specialist centres and for this reason it is recommended that training should be organized for adult cardiologists with an interest in grown-ups with congenital heart disease. These cardiologists, in addition to their normal training (which would have included echocardiography and non-invasive imaging), would:
This would facilitate a flexible interaction between the informed adult cardiologist and the specialist unit, to optimize both patient care and convenience.
It is recommended that a formal certification process should be established by the European board for the speciality of cardiology, indicating that cardiologists (either from paediatric or adult backgrounds) have fulfilled the training requirements in GUCH disease.
The training requirements for surgeons working in the specialist centres also need careful consideration and are currently being considered by a separate committee. The surgeon must have extensive experience in congenital and acquired cardiovascular disorders, before acquiring expertise in the surgery of grown-ups with congenital heart disease. Re-organization and centralization of care for paediatric cardiac surgery is in progress in many countries, in order to ensure a minimum level of surgical activity to develop skills and optimise results.8
The establishment of specialist units for grown-ups with congenital heart disease will provide environments for training of all staff and research opportunities. In this small, but growing, subspecialty, collaboration between centres bothnationally and internationally is essential. This would enable fellows to rotate between centres within their structured training programme.
Acceptance of clear training pathways and accreditation, as well as provision of the specialist environments for patient care and staff development is the key to a comprehensive clinical service for grown-ups with congenital heart disease.
4.1. Ventricular function
Accurate measurement of ventricular performance is an important part of the preoperative assessment, perioperative management and later follow-up any patient with heart disease. There is still no consensus as to the ideal technique, modality or index to apply to the analysis of left ventricular (LV) function in the biventricular circulation of adults with acquired heart disease. The issues are amplified in those with congenital heart disease. Abnormal ventricular geometry, the effects of previous surgery, extraordinary loading conditions, chronic hypoxaemia etc, all conspire to make meaningful analysis difficult. Furthermore, right ventricular (RV) dysfunction may be equally or more important in these patients, and similarly may be affected by the supplementary circulatory abnormalities associated with a congenital abnormality. Nonetheless and however flawed, the assessment of functional performance, timing of intervention, and analysis of response is central to the care of these patients.
While this area remains one of the frontiers of the speciality, and many of its aspects investigational, any unit dealing with adult CHD will require subspeciality expertise in quantitative transthoracic and transoesophageal echo Doppler, magnetic resonance imaging, radionuclide perfusion analysis, graded exercise function and invasive haemodynamic assessment. It is likely that there will be considerable overlap with the general adult or paediatric cardiac service, but specific details of testing, and interpretation of results will require appropriate expertise in grown-up congenital heart disease.
4.1.1. Echo-Doppler
Transthoracic echo-windows for parasternal LV short axis function and four-chamber interrogation for RV and LV long axis function and Doppler studies are rarely difficult to obtain. Many of the measures applied to the assessment of systolic and diastolic dysfunction in acquired heart disease are applicable to the corrected biventricular circulation, although with many caveats. For example, LV shortening fraction should be interpreted with caution when there is significant regional incoordination (which is extremely frequent) or residual left-to-right shunting, and Doppler assessment of LV diastolic function must take account of the possible influence of coexisting RV dysfunction in the biventricular circulation. There are more problems when considering the abnormally connected heart. Reduced shortening of the systemic RV may be a physiologic adaptation to increased afterload, and the presence of an intratrial baffle may make Doppler inflow measurements difficult to interpret. Regional incoordination is usual in the systemic ventricle of the post-Fontan univentricular circulation, and diastolic Doppler characteristics must be interpreted with an understanding of the inherently reduced resting preload. The potential of a relatively new modality, tissue Doppler imaging, is large and particularly appropriate to the study of GUCH patients. The demonstration of regional incoordination is intrinsic to the method.
There is no substitute for sequential data. To a large extent, the demonstration of change is more important than an, apparently, grossly abnormal single measurement. This reinforces the need for a rigid protocol of regular, standardized analysis, with a readily accessible databasing system. This applies equally to all of the techniques described in this section.
4.1.2. Magnetic resonance imaging
Ventricular volume measurements, while more robust than other modalities, are no less immune to the caveats regarding load etc, than shortening indices obtained by echocardiography. Similarly, the role of such measurements in clinical decision-making remains to be demonstrated. Taking the patient after repair of Tetralogy of Fallot as an example, MRI is unsurpassed in its ability to measure RV volumes, image the RV outflow tract and proximal pulmonary arterial tree, and assess volumetrically the degree of pulmonary regurgitation.9 Similarly intrinsic myocardial performance can be assessed in a way hitherto unexplored by other techniques. Ventricular mass, thickening, vector change, and contractile geometry remain research investigations, with potential clinical applications. As with all of the techniques discussed in this section, sequential data will likely be the most powerful and the non-invasive nature of this method makes this particularly appropriate. It is not too early to say that magnetic resonance imaging is an essential part of any tertiary or quaternary GUCH Unit.
4.1.3. Radionuclide studies
In the ageing population of GUCH patients, an understanding of the indications for, and access to these techniques is required. At a research level, regional abnormalities of myocardial perfusion at a microvascular level are being increasingly recognized.10 As yet, the direct implications, management, and potential drug modification of these findings remain investigational.
4.1.4. Invasive-studies
Careful evaluation of routine haemodynamic measurements is implicit in all forms of complex congenital heart disease undergoing invasive diagnostic studies. The more detailed assessment of ventricular performance also remains fundamental to the assessment of the natural history of pre- and postoperative disease. Simple angiographic, dimension-based, indices of ventricular performance add little to similar indices measurable by echocardiography or MRI. All such measurements are affected significantly by loading conditions. The assessment of intrinsic myocardial performance (contractility, diastolic properties etc.) requires more sophisticated analysis. While clearly remaining an investigational tool, conductance catheterization allows characterization of ventricular performance using the elastance model.11 Continuous pressure-volume analysis during interventions, more accurately allows description of the response to haemodynamic interventions, therapeutic interventions, and assessment before and after surgery.
The adequate assessment of ventricular function and ventriculo-vascular coupling is one of the most important areas of long term follow up of GUCH patients. Appropriate selection of technique will allow more robust analysis of natural and unnatural history, as well as modification by intervention.
4.2. Arrhythmia and pacemakers
Arrhythmia is the main reason for the hospitalization of grown-ups with congenital heart disease and is an increasingly frequent cause of morbidity and mortality.12 Factors that predispose to arrhythmia include the underlying cardiac defect (e.g. atrial isomerism), haemodynamic changes as part of the natural history (e.g. chamber enlargement, myocardial fibrosis), surgical repair and scarring and residual postoperative haemodynamic abnormalities. Arrhythmia, may itself, lead to haemodynamic decline, particularly in patients with very abnormal post operative circuits who are now surviving into adult life. This strong electrical and mechanical connection emphasizes the need for electrophysiological assessment and management to be closely integrated with care of the underlying heart defect. Correction of residual haemodynamic abnormalities may be the most important tool in the treatment of arrhythmia.
Supraventricular arrhythmia is more frequent than ventricular arrhythmia. Sinus node dysfunction is most common after atrial surgery (e.g. Mustard/Senning, Fontan, and atrial septal defect closure) and supraventricular tachycardia (intra-atrial re-entry tachycardia or atrial flutter) is becoming more frequent with longer follow-up.1315 Of note, though under emphasized in the medical literature, atrial flutter is a common cause of problems after Tetralogy of Fallot surgery.16 The highest incidence of ventricular arrhythmia is seen in aortic stenosis and after repair of Tetralogy of Fallot. Patients with the combination of sustained ventricular tachycardia and abnormal haemodynamics are at the highest risk of syncope and sudden death. QRS prolongation has been observed with right ventricular dilatation and pulmonary regurgitation in Tetralogy of Fallot follow-up, and this may be a useful marker for risk stratification.17
Pharmacological treatment of arrhythmia may be limited by haemodynamic side effects, concomitant sinus node dysfunction and by desire for pregnancy. Many standard anti-arrhythmic drugs have proved very disappointing in grown-ups with congenital heart disease and amiodarone is usually the most effective. Side effects, however, are a particular problem in this population.18
Catheter ablation and surgical approaches have been increasingly applied.19 Despite sophisticated current mapping techniques, success rates remain lower than those in structurally normal hearts, largely because arrhythmia circuits are complicated and often multiple.20 This situation may improve with technological refinements. One of the most challenging groups has been the failing Fontan patients and a combined electrophysiological-surgical revision strategy has met with somesuccess.21 A similar approach is often needed for Ebsteins anomaly.
Pacing in grown-ups with congenital heart disease is often difficult due to limited, abnormal access to the heart as well as the abnormal cardiac anatomy itself. The right atrial appendage is often absent or distorted and active fixation electrodes are usually required.22 Furthermore, intracardial shunts and thromboembolic risk may preclude an endocardial approach. A rate responsive system is required and dual chamber pacing is desirable. In the latter, a sophisticated mode switch algorithm should be available because of the high incidence of supraventricular tachycardia and atrial flutter. Anti-tachycardia pacemakers have been disappointing but new algorithms in the current generation of devices may prove more successful forboth treatment and prevention of supraventricular arrhythmias.23
Implantable cardioverter defibrillator trials in patients with ischaemic heart disease or dilated cardiomyopathy have shown survival benefit in selected subgroups and it is likely that these devices will be used with increasing frequency in patients with congenital heart disease who are considered at risk of sudden death. This has major funding implications and emphasizes the importance of identification of patients at high risk of malignant arrhythmia and sudden death.
The need for risk stratification, understanding of anatomy and function, choice of drug, catheter/implantable defibrillator or surgical intervention emphasizes the importance of very close integration of the electro-physiologist with the GUCH cardiologist and surgeon in the specialized team. Itshould be appreciated, however, that electrophysiological experts with the particular skills required for patients with congenital heart disease are rare and both training and resources need to be increased.
4.3. Cyanosis in the GUCH patient
Right to left shunts and the resulting hypoxaemia have profound haematological consequences, which affect many organs.
4.3.1. Haematologic problems
The increase in red cell mass, which accompanies cyanosis, is a compensatory response to improve oxygen transport. The white cell count is usually normal, and the platelet count may be normal or, more often, reduced. The increased red cell mass and consequent increased viscosity increases the risk of stroke, though in adults this is only slightly raised.24 Most patients have a compensated erythropoiesis with stable haemoglobin that requires no intervention. Therapeutic phlebotomy, therefore, is usually unnecessary unless the haemoglobin is >20g/dL and the haematocrit is >65%. At these levels of increased red cells, patients often experience symptoms of the hyperviscosity syndrome primarily consisting of headache and poor concentration. These symptoms may be relieved by removal of one unit of blood, with an equal volume replacement of dextrose or saline. Therapeutic phlebotomy, however, is a two-edged sword since erythropoietin may stimulate the bone marrow to produce more red cells. It is recommended, therefore, that therapeutic phlebotomy be performed no more than 23 times per year. Repeated phlebotomy depletes the iron stores and may result in the production of iron-deficient red cells. These iron-deficient microcytes are less deformable than iron-replete red cells and increase the risk of stroke by increasing blood viscosity.
The treatment of iron deficiency in a patient with destabilized erythropoiesis is challenging since oral iron frequently results in a rapid and dramatic increase in red cell mass. Administration of one tablet of ferrous sulfate (or gluconate) is recommended with a recheck of the haemoglobin in 710 days. The iron should be discontinued if there is a dramatic increase in red cell count.
4.3.2. Haemostasis
Reduced platelet count and abnormal platelet function together with clotting factor deficiencies combine to produce a bleeding tendency incyanotic patients, either spontaneously or perioperatively. Gingival bleeding, menorrhagia, and pulmonary hemorrhage (manifesting as haemoptysis) are common. The latter is sometimes fatal. For these reasons, the use of anticoagulants and antiplatelet agents should be confined to well-defined indications, with careful monitoring of the degree of anticoagulation. When the hematocrit is >60%, the citrate concentration in the coagulation tests needs to be adjusted; otherwise the results may be inaccurate.
4.3.3. Renal function
In chronic cyanosis, the renal glomeruli are markedly abnormal and are frequently hypercellular and congested.25 This results in a reduction of the glomerular filtration rate and increased creatinine levels. Proteinuria is common. Abnormal urate clearance frequently results and this, in addition to the increased turnover of red cells, leads to hyperuricemia and sometimes frank gout. Hyperuricemia without gout is usually well tolerated, however, and does not require intervention.26
4.3.4. Gallstones
Bilirubin may be produced from the breakdown of haeme in chronic cyanosis, and calcium bilirubinate gallstones are common in this adult population.27
4.3.5. Orthopaedic complications
Hypertrophic osteoarthropathy with thickened, irregular periosteum occurs in adults. This is sometimes accompanied by aching and tenderness especially in the long bones of the legs. Scoliosis is another important complication, which at times may be sufficiently severe to compromise pulmonary function.
4.3.6. Skin
Acne on the face and trunk frequently accompanies cyanosis. It is not just a cosmetic concern as it is a potential source of sepsis and endocarditis.
4.4. Pulmonary vascular disease (Fig. 3)
In the last 20 years, early diagnosis and improved infant cardiac surgery have reduced the number of adolescents and adults with pulmonary vascular disease. However, a considerable number of such patients still attend clinics for grown-ups with congenital heart disease. Despite the fact that their underlying condition is irreversible and progressive, there is a considerable return in terms of morbidity and mortality from careful management.
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A number of the treatments have shown haemodynamic improvement, and in some cases, outcome benefits in primary pulmonary hypertension and may also be applicable in grown-ups with congenital heart disease and Eisenmenger Syndrome. Systemic vasodilators such as calcium channel blockers should however be given with caution. Prostacycline, endothelin antagonists and Sildenafil may have a role, but no convincing clinical trial evidence is yet available. Long-term oxygen therapy at home for a minimum of 1215h per day may improve symptoms significantly but does not modify survival. Ultimately, lung transplantation needs to be considered for somepatients.29
4.5. Infective endocarditis
The ESC has its own Task Force on infective endocarditis and this document should be referred to for more extensive information.30
Most grown-ups with congenital heart disease, but not all, have a life-long risk of infective endocarditis. Education of the patient and their physicians about the risks and importance of early diagnosis needs constant reinforcement. There may be a variety of portals of entry of infection, in addition to dental and surgical procedures. These include body piercing, acne and tattooing. Interventional cardiac catheterization is infrequently associated with endocarditis, but antibiotic prophylaxis is usually given. Similarly, insertion of intrauterine contraceptive devices should be covered and antibiotics are generally recommended at childbirth.
Delay in diagnosis and referral is common and antibiotics are frequently prescribed before the diagnosis of endocarditis is considered or blood cultures are taken. Two blood cultures are adequate for microbiological isolation in approximately 95% of patients with the usual organisms who have not received antibiotics, but more should be performed to exclude clinically suspected infected endocarditis. It is easy to miss vegetations in adults using transthoracic echocardiography, particularly when this is performed by operators inexperienced in the investigation of congenital heart disease. The use of transoesophageal echocardiography increases the detection of vegetations considerably.
Prompt referral to the specialist unit is usually indicated as haemodynamic deterioration may be rapid and surgical management may be required. Infective endocarditis accounted for approximately 4% of admissions to a specialized unit for grown-ups with congenital heart disease in the UK.4
Not all patients are at risk and antibiotic prophylaxis recommendations vary. Infected endocarditis is not reported in secundum atrial septal defect, totally anomalous pulmonary venous connection and is extremely rare after the closure of ventricular septal defect, in pulmonary valve stenosis or small patent ductus arteriosus. Prophylaxis policies after interventional catheterization procedures involving device implantation vary, and are not evidence based. Antibiotic treatment and overall patient management should be undertaken in collaboration with an infectious disease specialist. Fungal endocarditis may be particularly difficult to treat and other unusual organisms may be responsible. The cardiac surgeon needs to be involved early, as surgical replacement of infected prosthetic material may be required. The ESC and AHA have published specific antibiotic regimes.30,31
4.6. Imaging in adults with congenital cardiac disease
There has been a shift form cardiac catheterization to non-invasive imaging modalities for patients with grown-up congenital heart disease, which is similar to that which has occurred in paediatric cardiology over the last two decades. These include echocardiography (transthoracic and transoesophageal) and MRI, which are essential in specialist GUCH centres. Cardiac catheterization is now reserved for resolution of specific anatomical or physiological questions (e.g. coronary arteries, pulmonary vascular resistance) or for intervention (see below). Transthoracic echo in adults is less effective than in children at describing complex intracardiac and extracardiac anatomy and physiology. Transoesophageal echocardiography often provides definitive information but has the disadvantage of usually requiring sedation or anaesthesia. MRI is increasingly becoming the investigation of choice for grown-ups with congenital heart disease providing 3D reconstruction of anatomy, improved temporal and special resolution as well as physiological information (Fig. 1). It has proved particularly useful for evaluation of right ventricular volume and mass, right ventricle to pulmonary artery conduit/valve function as well as for the study of pulmonary arteries, coarctation and systemic and pulmonary venous anomalies.32,33 Interventional procedures such as balloon dilatation and radio frequency ablation can now be carried out using MRI/catheter fluoroscopy techniques, further extending the role of this imaging modality. Until recently, computed tomography (CT) played only a minor role in the evaluation of congenital heart disease. Newer technologies however, such as ultra fast CT and spiral CT have reduced scanning time and provide excellent imaging which can be seen as complementary to echo cardiography and MRI.34 All of these imaging techniques require staff with expertise in complex congenital heart disease, in order to avoid the high rates of diagnostic errors reported in routine adult laboratories.35 This has planning, training and funding implications.
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Many of the techniques developed in children were contemporaneously, or subsequently adapted to the treatment of grown-ups with congenital heart disease. Relatively few techniques have become unequivocally established as first choice over their surgical counterparts. The decision to perform an intervention should therefore undergo a similar process of peer-review, and multi-disciplinary discussion as with surgery. Randomized studies against the surgical alternative are almost non-existent; registry data are limited, and local series are potentially affected by selection and reporting bias. Nonetheless, an interventional programme is central to any GUCH unit and at least one member of the team should be trained in interventional cardiology. Previous interventional experience in children is probably more relevant than previous experience in coronary intervention, but increasingly, specific experience in GUCH intervention is most desirable. The same can be said for allied medical support (anaesthesia, echocardiography etc.) and technical support within the cardiac catheter laboratory. The laboratory shouldbe equipped with biplane screening and storage equipment, should be large enough to allow simultaneous transoesophageal echocardiography, and be equipped with appropriate catheters, wires and devices.
4.7.1. Techniques
4.7.1.1. Balloon dilation
Balloon dilation of congenitally stenotic aortic, pulmonary and rheumatic mitral valves has been very successful. Aortic valvoplasty is usually performed using a single balloon technique. As in childhood, residual aortic incompetence is the most important complication. A balloon to aortic ratio of <1:1, antegrade dilatation via transeptal puncture, and adenosine cardioplegia have all been used to reduce the incidence of valve damage.36 Single, double, or Inoue balloon dilatation of pulmonary valve stenosis is usually successful, but a balloon: annulus ratio of <1.1:1 should be used to avoid pulmonary arterial damage. The role of balloon dilatation of native or postoperative aortic coarctationremains controversial.37 Dilatation of previous patch aortoplasty carries the highest risk of aortic rupture and should be performed with surgical standby. Balloon dilatation of native aortic disease can often be achieved with excellent results, although failure to relieve stenosis (1020%) aneurysm formation (510%) and restenosis (510%) have all been reported.38 For this reason, there has been an increase in vogue towards balloon dilatation with simultaneous stent implantation.
4.7.1.2. Balloon dilatation with stent implantation
This has become the technique of first choice for branch and distal pulmonary arterial stenosis.39 Balloon dilatation of right ventricular outflow tract obstruction, and stenotic right ventricular to pulmonary arterial conduits is less widely accepted. Stent implantation also has a role in the treatment of resistant stenoses in surgical venous pathways40 (Mustard/Senning/Fontan). Systemic arterial stent implantation is more controversial. The utility of stent implantation for coarctation of the aorta, stenotic aorto pulmonary collaterals in complex pulmonary atresia, and stenotic systemic to pulmonary shunts, while reported, remains to be proven. The need for anticoagulation after stent implantation is not known. Most would fully anticoagulate patients after pulmonary and systemic venous implantation and in those with erythrocytosis.
4.7.1.3. Embolization and occlusion techniques
Unwanted, usually acquired, venous and arterial collaterals and fistulous communications are readily occluded using coil embolization techniques. Similarly, the small arterial duct in adults can be closed using detachable coils, although in larger lesions (416mm), a detachable plug device is required (Fig. 4).
There are several devices available for closure of secundum atrial septal defect and patent foramen ovale. Transcatheter closure of atrial septal defect has become standard practice in most congenital units, for selected cases. Depending on the device, defects of up to 40mm can be closed, providing there is suitable atrial and septal anatomy. Many of the unanswered questions pertaining to surgical closure of ASD, are relevant to transcatheter closure. The degree of acceptable pulmonary hypertension, the need for concomitant atrial antiarrhythmia surgery and likelihood of symptomatic response, which depends on age at closure are yet to be resolved. Closure of patent foramen ovale in patients with early onset, cryptogenic, transient ischaemia attack (TIA) or cerebrovascular accident (CVA) can be achieved with extremely low morbidity, but with little evidence base.41 Recent trials have suggested the importance of aspirin in determining the level of risk of CVA in the presence of patent frame ovale.42 Treatment should be individualized and decision-making part of a multi-disciplinary process, which includes a specialist neurologist.
Many of these same ASD devices can be used for occlusion of other unwanted intra and extracardiac communications. Transcatheter closure of congenital ventricular septal defect is rarely indicated, but some ischaemic VSDs may be amenable to closure. Baffle leaks, systemic arterial, coronary, and venous fistulas communications have all been closed using these devices.
4.7.1.4. Percutaneous valve implantation
It is now possible to insert into the right ventricular outflow, a stent mounted bovine jugular venous valve, via a cardiac catheter.43 Clinical implantation has already been performed and offers the exciting prospect of non-surgical management of pulmonary regurgitation after repair of Tetralogy of Fallot and related conditions. Further work is required to develop a valve, which is suitable for the dilated outflow tract found in many adultpatients. An implantable valve that can be used in the systemic circulation also appears possible.
4.8. Pregnancy and GUCH
Most grown-ups with congenital heart disease can tolerate a pregnancy with proper care.44,45 Pre-pregnancy counselling and evaluation is mandatory and should include a physical examination, assessment of haemodyanamic status (usually including echocardiography) and functional capacity. Exercise testing may be particularly helpful in this regard. A complete family history should also be taken to offer informed genetic counselling. A review of medications is necessary to avoid any drugs that may be deleterious to the foetus (e.g. ACE inhibitors). The risks to the mother of morbidity and mortality and, when appropriate, the impact of pregnancy on long-term survival should be discussed. In addition, the risks to the foetus of inheriting congenital heart disease should be considered. Patients can be stratified into high, medium and low risk. The highest maternal risk is associated with Eisenmenger syndrome, with a maternal mortality of 50% (often after delivery).46 The number of mothers with complex post operative circulations (such as Fontan or Mustard/Senning) remains small and risk stratification is therefore difficult.47,48 High-risk patients include those with:
Appropriate medical management throughout pregnancy for high-risk patients may include:
The management of patients with mechanical valves is particularly challenging, particularly those with mitral tilting disc prostheses.49,50 Heparin treatment may be associated with thromboembolic complications, whether administered subcutaneously or intravenously. The role of low molecular weight heparin is not established. Warfarin treatment may be safer for the mother, but can be associated with foetal embryopathy. This risk appears to be small if the Warfarin dose is <5mg per day.51
Cyanotic heart disease also poses a significant risk for the foetus and this is proportional to the degree of maternal hypoxia. Low birth weight for gestational age and prematurity are common with maternal cyanosis, and for those mothers with an arterial oxygen saturation 85%, only 12% of pregnancies are successful.52 Patients who should be counselled against pregnancy include those with:
Women with congenital heart disease considered at high risk should be managed in a specialized unit, which includes an obstetrician, a cardiologist expert in grown-up congenital heart disease, an anaesthetist and a paediatrician. This team should be involved from early pregnancy and plan monitoring of the pregnancy, mode of delivery and post delivery care. This specialized team can also provide a consultation service for obstetricians and physicians managing lower risk women in other centres.
4.9. Genetic counselling and contraception in GUCH
The risks of pregnancy vary greatly in congenital heart disease and must be weighed against the risks of contraception. Systematic studies, however, on contraception in women with congenital heart disease are lacking.52 Patient compliance and sexual behaviour must be considered, as they will affect contraceptive efficacy and the incidence of complications. Usually, the patient chooses her own preferred method, but the physician should provide informed advice. Often, there is no ideal method and the least hazardous one is indicated.
Barrier methods are safe from a cardiovascular standpoint and have a high degree of contraceptive efficacy in compliant couples and women >35 years. Low dose oestrogen combined oral contraceptive pills are very efficacious, but their thrombogenic properties may make them hazardous in certain situations, such as after the Fontan operation or in patients with atrial fibrillation/flutter. Combined oral contraceptives are contraindicated in patients at risk of paradoxical embolism,unless they are also receiving anticoagulants. The oestrogen containing contraceptive pill should not be used in patients with pulmonary or systemic hypertension. Medroxyprogesterone injection (Depo-Provera®), subcutaneous deposition of levonorgestrel (Norplant®) or progesterone only pills are effective, but may cause fluid retention and should not be used in patients with heart failure. Depression and breakthrough bleeding may prevent the use of progesterone pills and there is a higher failure rate than with the combined oral contraceptives.53
Intrauterine devices have been associated with an increased incidence of pelvic inflammatory disease and it has been suggested that they carry a risk of endocarditis, especially in cyanotic women, those with artificial valves/shunts/conduits and those with previous endocarditis. However, the reported number of women with intrauterine devices complicated by endocarditis is very low and concerns mainly old-fashioned intrauterine devices. The levonorgestrel-releasing intrauterine device (Levonaova®) has a low incidence of pelvic inflammatory disease and a contraceptive efficacy equivalent with that of combined oral contraceptives.54 It has been approved for use in women at risk of endocarditis. If used in that setting, antibiotic prophylaxis should be given at insertion as well as at extraction. The local release of progesterone reduces the bleeding problems encountered with other intrauterine devices. In women who have not experienced pregnancy, intrauterine devices are not a first choice.
Surgical sterilization may be considered in a woman at high risk from pregnancy, but should not be undertaken without discussion of potential medical advances, which might later allow pregnancy at an acceptable risk.
4.9.1. Recurrence risk/genetic counselling
There is extensive information about recurrence risk of congenital heart disease in siblings but until recently, few data about recurrence risk in couples where the mother or father has a congenital heart defect. The recurrence rate of congenital heart disease in offspring ranges from to 250% and there is a higher risk when the mother, rather than the father, has cardiac disease.5557 The highest recurrence risks are in single gene disorders and/or chromosomal abnormalities, such as Marfans syndrome, Noonans syndrome and Holt-Oram syndrome. Genetic counselling should be available in the specialized units for grown-ups with congenital heart disease and specific genetic testing is likely to evolve as understanding of the genetic basis of congenital heart disease improves. The specialist unit should also offer foetal echocardiography at 1618 weeks gestation and chorionic villous sampling or amniocentesis may also be indicated in selected cases. The potential for drugs to affect the foetus should always be considered. In particular, angiotensin converting enzyme inhibitors and angiotensin II receptor blockers should not be used in pregnancy and withdrawal of amiodarone and Warfarin should be considered. Protocols for stopping Warfarin and managing anticoagulation are required.
4.10. Comorbidity and syndromes
Congenital and acquired comorbidity is common in grown-ups with congenital heart disease and has an important effect on outcome and treatment. Cognitive and intellectual impairment may be a feature of co-existing heritable or chromosomal syndromes, which are present in 1520% of congenital heart disease. Such patients are surviving into adult life with increasing frequency due to a more active approach to their treatment in childhood. Alternatively, late problems may result from neurological complications in the perinatal and perioperative period and are likely to pose a serious burden on the families and to produce an important demand on medical and social institutions. This has not yet been addressed or funded in most European countries. Knowledge of the individual characteristics of such syndromes assists cardiac diagnosis and provides a clue to the presence of extra cardiac problems.
Skeletal deformities are common in cyanotic states, especially when a lateral thoracotomy incision was performed in early life. There may also be visible chest or breast deformities, which have psychosocial impact (Fig. 2).
Chronic cyanosis is associated with pulmonary, metabolic and haematological problems (see ) and sequelae from previous operations or catheterization may include arterial or venous peripheral occlusions and scars on the chest.
Management of comorbidity in grown-ups with congenital heart disease deserves a thorough understanding of pathophysiology by the cardiology team as well as close communication with the various non-cardiac specialists involved (Table 1).
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4.11. Emergencies adults with congenital cardiac disease
Acute cardiac and non-cardiac emergencies occur in grown-ups with congenital heart disease and their optimal management may be above the ability of emergency room, general medical or adult cardiology staff.58 The most frequent are arrhythmia, infections, heart failure, cerebral ischaemia or aortic root problems. It may be possible to provide appropriate initial treatment in the local hospital (usually after consultation with the specialist centre) but patients with more severe complications or more complex congenital heart disease will usually require transfer to the specialist centre. Geographical planning of the hierarchical care delivery model is thus very important. At present, the limited available expertise has developed in an unplanned fashion and long distances between specialist centres may delay diagnosis and treatment and actually discourage appropriate transfer.
5.1. Cardiac surgery
Adolescents and adults with congenital heart disease who require surgery fall into three categories: (1) those who have not previously undergone operation, (2) those who have had palliative surgery and (3) those who have had reparative surgery. In each category, there are several consideration, which make surgery, in this population, different from other types of cardiac surgery (either adult surgery for acquired heart disease or paediatric surgery for congenital defects). There are strong arguments for concentrating surgical management of grown-ups with congenital heart disease into specialist units for both care provision and training. Surgery can be performed safely only by teams who have extensive experience in the management of congenital heart defects in infants and children as well as knowledge of the principles of conventional adult cardiac surgery.
5.1.1. General planning of the operation
The first operation may be required in patients with simple defects (e.g. atrial septal defect) but more often is needed in patients with complex malformations (e.g. pulmonary atresia with ventricular septal defect). In patients who have previously undergone palliative or reparative surgery, the consequences of previous operations may add to the complexity of the management of the primary defect. Thorough cardiac evaluation is mandatory in all cases. Surgical planning requires knowledge of the basic congenital malformation, of the previous surgical procedures and of the potential residual or recurrent lesions after these operations. The surgical team needs to be intimately involved in the review of the diagnostic information, the decision-making and planning of the patients overall management. It is mandatory that the previous surgical reports be available.
In adult cardiac surgery for acquired heart disease, the risk and benefits of most surgical procedures are well established. In contrast, every grown up with congenital heart disease poses specific problems and the risk/benefit ratio of any proposed surgical procedure is often difficult to assess. It may therefore be difficult to communicate the necessary information about risks and benefits to the patient.
5.1.2. Specific surgical challenges
Some surgical problems apply to all first operations or re-operations in adults with congenital heart disease.
5.1.2.1. Preservation of myocardial function
In most patients, preoperative ventricular function is abnormal as a result of ventricular morphology, ventricular hypertrophy and long-standing pressure or volume overload. Myocardial fibrosis and ischaemia as well as the sequelae of previous operations may also influence ventricular function and require meticulous preoperative assessment.
To achieve optimal intraoperative preservation of myocardial function, some recommendations can be made:
Strategies for myocardial protection and cardioplegia should include:
5.1.3. Blood salvage techniques
Autologous transfusion should be encouraged and be used wherever possible. In cyanotic patients, preoperative phlebotomy may be indicated to improve haemostatic status and the blood should be kept for autologous transfusion. Patients undergoing re-operation after initial reparative surgery are less likely to be cyanotic but they can usually predonate an adequate amount of blood and fresh frozen plasma. Iron repletion is indicated in most cases managed in this way. Erythropoietin administration may allow rapid and timely increases in haematocrit. Patients with congenital heart disease are prone to intraoperative and postoperative bleeding because of relatively long suture lines, an increase in tissue vascularity, intrinsic haemostatic defects and prolonged periods of cardiopulmonary bypass. Replacement of consumed or inactivated clotting factors, particularly platelets, is an important requirement. Aprotinin has proved effective in reducing intraoperative bleeding, particularly in patients undergoing re-operation. The routine intraoperative use of a cell saver system is important. Ultrafiltration (either conventional during cardiopulmonary bypass or modified after cessation of bypass) has been shown to result in a significant reduction in the need for postoperativeblood transfusion as well as to improve myocardial and lung function and extraction of soluble inflammatory mediators.
5.1.4. Redo sternotomy incision
Reopening a sternal incision remains a crucial step, particularly when an enlarged right ventricle or an extracardiac conduit may be apposed or adherent to the back of the sternum, or when the aorta lies anteriorly (transposition of the great arteries). If particular difficulty is anticipated, cannulation of the femoral vessels, institution of bypass and decompression of the heart before reopening the sternum are prudent precautions. When re-operation is anticipated, at previous operation, implantation of a retrosternal prosthetic membrane greatly facilitates reopening of the sternum, although this sometimes makes more difficult the subsequent identification of the mediastinal and cardiac structures.
5.1.5. Pulmonary vascular bed abnormalities
In most patients undergoing surgery for acquired heart disease, the pulmonary vascular bed is normal. This is not the case in many adults with congenital heart disease and management of elevated pulmonary vascular resistance is particularly important in the early post operative period. Severe distortion of the pulmonary arteries may be present in previously operated patients (pulmonary artery banding, aortopulmonary shunt or previous surgery involving the pulmonary arteries). Preoperative dilatation and stent implantation is sometimes indicated. Alternatively, these lesions may be repaired adequately using pericardial patches. Pulmonary arteriovenous fistulae may develop in patients after a long-standing classic Glenn shunt. Rarely, large fistulae can be occluded with devices such as coils. More often, however, there are multiple small fistulae, which are not amenable to occlusion. Such lesions may regress after reparative surgery, but may be the source of severe, often lethal postoperative complications. In all patients, the pulmonary vascular bed (anatomy and physiology) must be evaluated very carefully, as abnormalities may preclude further surgery or be an important cause of failure after surgery in grown-ups with congenital heart disease.
5.1.6. Aortopulmonary collateral circulation
In cyanotic patients, aortopulmonary collateral vessels may complicate peri-operative and post-operative management. Important collateral circulation, if not curtailed, results in excessive return to the left atrium. It obscures visualization of the operative field, washes out cardioplegia, compromises systemic perfusion and causes volume overload of the left side of the heart during the critical, post-operative period. The size, location and end-parenchymal distribution of the collateral vessels must therefore be established precisely. Adequate management may include (1) pre-operative occlusion (by interventional catheterization) or surgical ligation at the beginning of operation, (2) surgical unifocalization of large collateral vessels which are the sole sources of blood flow to significant portions of the lungs, (3) deep hypothermic low flow cardiopulmonary bypass to prevent the deleterious effects of multiple small collateral vessels not amenable to surgical occlusion.
5.2. Anaesthesia and post operative care
Grown-ups with congenital heart disease requiring cardiac and non-cardiac surgery present a spectrum of severity ranging from well patients with minor problems to those with extreme deviations from normal cardiovascular physiology. There is however, little evidence-based information to enable choice of anaesthetic technique in these patients. Anaesthesia demands particular attention to endocarditis prophylaxis, avoidance of air emboli, appropriate placement of vascular catheters and regulation of intra-vascular volume and systemic/pulmonary flow. The most important aspect of peri-operative care is the involvement of a clinical team with detailed understanding of the patients cardiac defect, functional status and anticipated peri-operative stresses.
5.2.1. Physiology
Cardiovascular impairment and increased anaesthetic risk may be due to hypoxaemia, pulmonary vascular disease, cardiac failure or arrhythmia. Polycythaemia is the major adaptive response to hypoxaemia. Blood viscosity increases exponentially with haematocrit and may be further increased with iron deficiency.59 Polythaemic patients must not become dehydrated and should receive intravenous fluids from the night before surgery. In patients with decreased pulmonary blood flow, hypoxaemia should be minimized by ensuring adequate hydration, maintaining systemic arterial pressure, minimizing transient elevation in pulmonary vascular resistance and avoiding increases in oxygen consumption. Elevated pulmonary blood flow, on the other hand, may increase excessively cardiac work or decrease systemic perfusion. The strategy in this situation is to maintain ventricular performance and optimise pulmonary to systemic flow ratio. In the presence of a systemic to pulmonary shunt (e.g. Blalock-Taussig) pulmonary flow will vary with the pressure gradient. Increases in pulmonary blood flow decrease pulmonary compliance and increase airway resistance and work of breathing. Significantly increased pulmonary blood flow leads to airway obstruction and non-compliant lungs. Reactive pulmonary vasculature can be treated with anaesthetic drugs, positive pressure hyperventilation, oxygen and pulmonary vasodilators. If pulmonary blood flow is reduced, it is important to prevent further reductions. Airway dead space volume is increased with positive pressure ventilation, increased alveolar pressure or decreased left atrial or pulmonary artery pressures.
5.2.2. Assessment
Pre-operative assessment should define baseline problems and identify patients at increased risk. The cardiac anaesthetist should be involved in pre-operative conferences and overall planning of the management strategy. Access to all previous operation notes is invaluable. Clinical evaluation should be supplemented by laboratory data, ECG, chest X-ray, echocardiography and catheterization information. Lung function tests should be performed if the patient has scoliosis. Previous surgery may have resulted in recurrent laryngeal and phrenic nerve injuries or Horners syndrome.
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5.2.4. Monitoring
The use of invasive monitoring depends on the magnitude of surgery and the underlying cardiovascular pathophysiology. Placement of a pulmonary artery catheter can be technically difficult on account of anatomical abnormalities and might actually be dangerous in the presence of reactive pulmonary vasculature. Transoesophageal echocardiography is useful for following ventricular performance, valve function and blood flow. Some practical considerations for monitoring are important. End tidal CO2will under estimate paC02in the presence of right to left shunting or common mixing. Previous systemic to pulmonary shunt placement requires blood pressure monitoring on the contra-lateral side. Accuracy of pulse oximeters is not guaranteed below levels of 80%. Vascular access may be problematic due to venous thrombosis or interrupted vena cava with azygos continuation. Central venous necklines pose a significant thromboembolic risk in the Fontan circulation and should be removed as soon as feasible. Femoral veins can be used for central drug administration.
5.2.5. Post anaesthesia care
Post operative care is usually provided in a high dependency or intensive care environment and standard management principles apply to most patients. Experience in the management of pulmonary vascular resistance, shunt lesions, ventricular outflow tract obstruction and rightventricular dysfunction is however particularly important. There is a trend in modern intensive care units to emphasise fluid administration and systemic oxygen delivery in high-risk surgical patients. This approach may not be well-tolerated by GUCH patients with poor ventricular function.
Cardiopulmonary interaction is important. Control of arterial blood gases (particularly PaCO2) is fundamental to regulating pulmonary blood flow. While low airway pressures and weaning from ventilation are beneficial to trans-pulmonary flow, it is important to remember that the duration of the inspiratory phase during positive pressure ventilation has more influence than the absolute level of peak inspiratory pressure. Indeed shortening the inspiratory time (with consequent increase in peak inspiratory pressure) is usually the best strategy to maximise pulmonary flow. The alveolar ventilation CO2response curve is normal. Hence adequate analgesia is important and appropriate. This isparticularly important in the presence of labile pulmonary artery pressures. The hyperbolic relationship between SaO2and Qp:Qs is often not understood by general intensive care staff. As a result, the significance of inappropriately high saturations in a complete mixing circulation may not be appreciated or raise concern.
5.3. Non-cardiac surgery
The risks of noncardiac surgery depend on the nature of the underlying cardiovascular abnormality, the extent of the surgical procedure, and whether or not it is an elective procedure or an urgent one. Preoperative planning must include consultation with a specialist GUCH centre.60 The precise haemodynamic and anatomic abnormalities need to be understood, and the evaluation usually includes a Doppler echo assessment of ventricular function and pulmonary artery pressure. The risks of the operation must be explained to the surgeon including the risks of haemodynamic instability, haemorrhage, hypotension, and hypovolaemia, along with the risk of endocarditis.61 Additional coexistent problems, which frequently accompany congenital heart disease, such as renal dysfunction, must also be evaluated in addition to those acquired disorders to which adult patients are vulnerable (systemic hypertension, ischaemic heart disease, arrhythmia (both ventricular and supraventricular), peripheral varicosities, etc.). Planning the procedure carefully is of the utmost importance. Urgent noncardiac operations carry a higher risk, and complications may be more frequent in patients undergoing respiratory or nervous system procedures. Intraoperative monitoring may be helpful in detecting early haemodynamic changes so that appropriate treatment can be initiated promptly. Continuous intra-arterial monitoring enables sudden changes in intravascular volume and haemodynamics to be detected, and facilitates periodic arterial blood gas determinations. The decision of whether or not to utilize a central venous line or pulmonary artery pressure recording (with or without oximetry) must be determined in each individual case and the risk-to-benefit ratio assessed. The latter may be associated with an increased risk of ventricular arrhythmia andparadoxical embolism in patients with pulmonary hypertension and right-to-left shunt.
5.3.1. Unoperated congenital heart disease
Patients with significant obstructive lesions (aortic stenosis, coarctation, and pulmonary stenosis) are vulnerable to intraoperative hypotension especially if ventricular function is depressed. Rapid fluid infusion may precipitate pulmonary edema. Elective noncardiac surgery may be performed more safely after repair or replacement of the obstructive valve or arterial lesion. A patient with ventricular dysfunction from any cause is more vulnerable to perioperative complications (e.g., congenitally corrected transposition of the great arteries when the systemic ventricle is the morphologic right ventricle).
5.3.2. Operated congenital heart disease
Patients with repaired congenital heart disease are vulnerable to arrhythmia and haemodynamic deterioration, particularly when they have impaired ventricular function, which may be exacerbated by the loss of atrial transport. A multidisciplinary approach to their perioperative management will help to minimize the complications.
5.3.3. Cyanotic heart disease
Patients with cyanotic congenital heart disease are most at risk from noncardiac surgery, especially if they to have pulmonary hypertension.60 The increased risk of haemorrhage secondary to the inherent haemostatic abnormalities can be temporarily reduced by preoperative phlebotomy, if the haematocrit is >65%. One unit accompanied by isovolumic fluid replacement may be performed, and the blood can be saved for potential autologous transfusion. For cyanotic patients a fall in systemic vascular resistance can increase the right-to-left shunt and increase hypoxia. This is not tolerated well and can potentiate cardiovascular collapse. Lengthy operations associated with haemodynamic instability necessitating large volume fluid replacements are also associated with increased perioperative mortality. Spinal anaesthesia, similarly, can result in a fall in systemic vascular resistance and reduced venous return. This method of anaesthesia is thus best avoided in cyanotic patients. For any patient with a right-to-left shunt, there is an increased risk of a paradoxical embolus and air filters should be placed on all intravenous lines. Bacterial endocarditis prophylaxis should be given whenappropriate.60,61
5.4. Transplantation (Fig. 5)
Transplantation is the final palliation for many grown-up patients with congenital heart disease and must be considered when the short-term prognosis is reduced or the quality of life unacceptable. Transplantation may involve either heart, heart-lung, single or double lung with intracardiac repair.
The most common congenital lesions that ultimately may require transplantation include failed Fontan, Mustard or Senning procedures, congenitally corrected transposition, complex pulmonary atresia and Eisenmenger complex. In addition, an increasing number of recipients will include those requiring retransplantation after primary transplantation for congenital lesions in childhood.
Risk stratification scores are available for terminal congestive heart failure62 but may not apply to grown-ups with congenital heart disease. This makes decisions regarding timing of transplantation difficult.
In addition to standard pretransplant work up, attention needs to be directed towards specific issues in grown-ups with congenital heart disease. Sensitization from previous transfusions may increase the early risk of rejection and graft failure. Treatment to reduce the HLA antibody level may be required before placement on the waiting list. Assessment of pulmonary vascular resistance is difficult in patients with low cardiac output, residual lesions, shunts or collaterals. Detailed planning of the surgical approach is crucial in many complex lesions and all anatomic details, including the systemic and pulmonary venous return need to be defined. MRI is particularly informative. Non-adherence to post transplant medications is a major problem in young adults and pre-existing psychosocial issues may require careful evaluation before listing. Other risk factors that are specific to the failing Fontan patient include protein losing enteropathy and pulmonary arteriovenous fistulae. An increasing number of patients with terminal cardiopulmonary lesions have underlying chromosomal anomalies, which may further complicate decision-making.
Surgical issues in previously operated patients include difficulties with cannulation, dissection, abnormal anatomy, need for an additional conduit for reconstruction, bleeding and prediction of the time needed to prepare the recipient. This often leads to longer ischaemia and bypass times, which may jeopardize graft function and survival.
The current 1-, 5- and 10-year survival after cardiac transplantation in non-GUCH patients is 80, 70 and 55%.29 For heart-lung transplantation the survival is only 65, 45 and 30%, respectively.29 The outcome after heart transplantation is significantly lower in many grown-ups with congenital heart disease, including Fontan patients, primarily due to a higher early attrition.6366 Late attrition after transplantation has not improved significantly during the last 1020 years despite introduction of new immunosuppressants. Chronic rejection (graft coronary vasculopathy in hearts and obliterative bronchiolitis in lungs) and malignancy remain the main concerns. Immunologic progress and new drugs will hopefully improve this in the future.
The increasing donor shortage and inferior results may influence donor organ allocation to grown-ups with congenital heart disease patients. The increasing number of patients surviving with palliated lesions and those with previous transplants will worsen the donor situation dramatically and many patients will never get to transplantation until viable alternatives such as reliable long-term mechanical support systems or xenotransplantation become available. This problem is of particular concern for grown-ups with congenital heart disease requiring heart-lung grafts.
6. Psychosocial issues (Fig. 2)
In addition to provision of care for complex medical and surgical problems, the specialist service for grown-ups with congenital heart disease must provide support for the many psychosocial problems in this population.67 These include a high level of anxiety about the underlying heart condition and prognosis, difficulties with social interaction as well as specific issues regarding employment, insurance and physical activity.68 Staff with appropriate expertise should form part of the specialist team and are frequently called upon to act as advocates for the patients who may face unfair discrimination. Further studies are required to investigate the relationship between the underlying disability, level and type of follow up care, emotional status and affect on psychosocial health and performance. These should examine well-characterized populations of patients, use validated questionnaires, grading of physiological performance and appropriate control groups for comparison. Currently, validated congenital heart disease specific measures are not available. This information will assist in the training of professionals and enable the provision of counselling services, specific to the needs of adolescents and adults with congenital heart disease.
6.1. Intellectual development/education
Intellectual development may be influenced by genotype, the presence of syndromes, as well as the disturbed haemodynamics of the cardiac defect and its treatment. Many patients with syndromes involving learning disabilities of varying degree now survive into adult life, including Williams syndrome, Downs syndrome and 22q11 deletion. They have specific educational needs. Cognitive function may be affected by early neurological complications of low cardiac output, acidosis, and hypoxia as well as by the consequences of cardiac surgery,anaesthesia, hypothermia, circulatory arrest and cardiopulmonary bypass. Intellect may be further influenced by chronic cardiac failure, arrhythmia and/or cyanosis as well as absence from school.
Studies of intellectual outcome in young adults with relatively simple congenital heart defects have been very encouraging. Indeed, level of educational attachment may be superior to that in the general population, reflecting the high level of motivation of grown-ups with congenital heart disease and the support of their families and health care providers.69 Data in patients with complex defects are more limited. Some studies have shown below average I.Q. scores in cyanotic congenital heart disease, including Tetralogy of Fallot and transposition of the great arteries.70 Individual factors such as duration of chronic hypoxia and elevated haematocrit may have a limited impact but, in general, combinations of adverse factors appear to have long-term detrimental effects. Up to 10% of children with congenital heart disease will have a cerebovascular infarction, most within the first 2 days of life.71 Early correction of congenital heart disease, as is currently undertaken, may reduce these neurological complications, but may in itself, have neurocognitive effects which will become manifest in later life.
6.2. Employment
Ability to obtain and maintain employment will depend on intellectual and physical capacity, motivation, and interaction with peers as well as potential discrimination by society. Several reports of employment status of grown-ups with congenital heart disease have shown that unemployment is more common in patients with complex lesions.72 Approximately 10% are considered totally disabled. The economic consequences of unemployment vary in different countries, because of the marked differences in the levels of social and welfare programmes across Europe. Nevertheless, even under the most generous systems, unemployment has major adverse effects including lowered self-esteem and social contact, especially in this potentially vulnerable population.
Appropriate employment counselling is part of the responsibility of the medical profession, assisted by other members of the specialist team, including nurse counsellors. Advice needs to be realistic and based on physical and intellectual capacity as well as on specific issues, such as arrhythmia, which may preclude certain types of job (e.g. car driving). There are often specific exclusions for jobs, particularly in the publicsector, which varying between countries, (e.g. armed forces and police). The ability of the patient to undertake the demands of different occupations may need to be tested in formal programmes. Other services such as vocational and physical rehabilitation as well as job training may broaden the patients range of employment options.
Studies have shown discrimination against job applicants with congenital heart disease. These are based on concerns about performance, absenteeism, premature retirement and medical insurance. Legislation against such behaviour by potentialemployers varies between countries, including affirmative action to employ disabled persons. Furthermore, prohibition of discrimination on the basis of higher insurance costs is often included and is crucial in countries with an insurance-based system for medical care. The practitioner can greatly increase patients employment chances by interacting directly with the prospective employer, as objective outcome data for many conditions are still not available.
6.3. Insurance
Life insurance and health insurance availability vary greatly both within and between countries. Despite attempts to standardize and improve the situation, patients may still need to shop around to obtain the best deal. Physicians and organized patient groups, such as the Grown-Up Congenital Heart Association in the UK, provide extremely useful advice and assistance in directing patients to friendly companies.
Life insurance remains an important component of financial planning, not least in relation to mortgage and house purchase. Life insurance may be denied, be made available at normal rates or have a heavily loaded additional premium.73 A study in 1993 in the UK evaluated both life and health insurance available to adults with congenital heart disease.74 The findings revealed a surprising discordance between insurance policy and medical outcome data. For example, patients with repaired aortic coarctation were insurable at normal rates, whilst patients were often denied insurance after successful repair of ventricular septal defect. Health insurance was usually available, but almost always excluded benefit for the underlying cardiac condition. This can have a major impact on delivery of optimal medical care to grown-ups with congenital heart disease in an insurance-based medical system. In an earlier German survey among a cohort of GUCH patients, more than 30% were refused life insurance.75 Further studies are in progress in the UK and France to obtain up to date information. Insurance recommendations from cardiac societies exist in Italy and Switzerland, but not in the other European countries surveyed. This is clearly an unsatisfactory situation and could be improved by establishment of formal practice guidelines and outcome analysis, which could be shared with insurers. Strategies for insurance of patients with more complex lesions and worse outcomes need to be developed if medical care is not to be compromized by financial considerations.
6.4. Physical activity/sport
Participation in sports and regular physical exercise have well documented beneficial effects on fitness, psychological well-being, confidence and social interaction as well as on the later risk of acquired cardiac disease. Recommendations on exercise in grown-ups with congenital heart disease need to be based on the ability of the patient as well as on the impact of physical training on cardiac haemodynamics76,77 (e.g. ventricular remodelling, myocardial ischaemia). Counselling should include an appreciation of the type of energy expenditure involved in different sports and teaching of a method to enable the patient to limit his or her activities (Table 2). These include the Borg scale of perceived effort, a target heart rate range (6080% of maximum heart rate achieved during testing without symptoms or haemodynamic deterioration) and a simple breathing rule (activity can be carried out safely as long as breathing still permits comfortable speech). Impact sport should be avoided in patients with Marfans syndrome or other aortic anomalies, those on oral anticoagulants or those with pacemakers. Formal testing, assessing the impact of exercise levels relevant to the patients expectations during normal day life, should be undertaken and protocols derived from conventional adult exercise testing programmes need to be adapted.78 Doctors should use these results in discussion with patients. In general, medical practitioners are conservative and are often unnecessarily proscriptive in their recommendations; this may have important adverse effects on quality of life.
Exercise may have acute, chronic and potentially harmful haemodynamic effects in patients with congenital heart disease. These include fluid depletion, blood pressure rise or fall, tachycardia and/or arrhythmia as well as long-term effects on ventricular hypertrophy and function. Of most concern is the risk of sudden death during or after exercise. Most cases of sudden death during physical activity in the young are due to a previously unrecognized cardiac disorder and sudden death in patients with known congenital heart disease is very rare (1 in 10 000 patients in a recent survey in nine specialist centres for grown-ups with congenital heart disease). Potentially lethal situations may occur with arrhythmia and haemodynamically vulnerable circulations (e.g. preload jeopardized circuits such as after Mustard/Senning or Fontan operation or with heart failure. Advice to perform social exercise to a level of comfort, but not to attempt competitive sports is applicable in most situations.79,80
6.5. Quality of life
Few studies of quality of life have been performed using validated measures in large populations of adolescent or adults with congenital heart disease. Most have limited relevance to modern management.81 Most patients, when questioned, will say that they are asymptomatic. Whilst many are able to enjoy the full range of normal life activities, patient symptom reporting should be interpreted with caution as they may always have been limited and thus do not know any better.82 Alternatively, they may be reluctant to admit limitations and to discuss problems. Allocation of sufficient time to obtain a good history (often by the nurse counsellor) is essential and may need to be supplemented by objective testing.
Psychosocial adjustment to adult life depends, not only on the type and severity of the congenital heart defect, but also on the attitude and behaviour of family, friends and the GUCH team. Sensitive handling and education can be enormously valuable and the advocacy role of the GUCH team cannot be over emphasized.
6.6. Patient organizations
In many European countries, patient organizations have been established and are active in spreading medical information, educating patients and securing patient rights. These organizations, due to their contact with media, may often have a greater political impact than normal health channels. Patient specific websites are invaluable for education as well as helping to direct patients to appropriate specialist centres. Many patient organizations have been effective in raising money for medical research and new expensive treatment approaches. Regular contact between specialist units for grown-ups with congenital heart disease and these organizations is therefore important.
This section summarises the current management strategy for the commonest lesions seen in grown-ups with congenital heart disease. Many recommendations are based at clinical experiences rather than evidence trial randomized clinical trials. We have therefore chosen not to use categories of strength of endorsement as in other ESC Task Forces.
Atrial septal defect
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Ventricular septal defectunrepaired
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Repaired ventricular septal defect
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Postoperative complete atrio-ventricular septal defect
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Postoperative partial atrio-ventricular septal defect (p-AVSD)
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Pulmonary stenosis
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Tetralogy of fallotpostoperative
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Conduits
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Aortic valve stenosis (unoperated)
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Postoperative valvar aortic stenosis
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Subaortic stenosis unoperated
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Unoperated coarctation
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Operated coarctation
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Patent arterial duct
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Ebsteins anomaly
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Fontran
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Marfans syndrome
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Postoperative transposition (Mustard/Senning)
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Congenitally corrected transposition
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8. Recommendations for Future Developments in Europe
8.1. Summary
This task force seeks to describe the increasing population of grown-ups with congenital heart disease, promote a review of their needs and make proposals for service delivery. The representatives were chosen from Europe, Canada and United States because they had pioneered the subject in their countries, as well as contributed to previous guideline documents. It is recognized that this is a speciality in evolution and that new information is likely to be acquired rapidly. There is an urgent need to establish a comprehensive hierarchical service with dedicated specialist units and defined referral links. This report proposes a framework, which should be adapted by health care systems in European countries and developed further. Cases of congenital heart disease in adults will strongly outnumber those in children and the number will continue to grow. We hope the contents of this report will be a stimulus to investment to enable patients to be managed in adequately staffed and funded expert units and to continue to receive the excellent level of health care provided to them during childhood.
9. European Society of Cardiology Staff
Alan Howard, Chief Executive
Keith McGregor, Scientific Director
Veronica Dean, Practice Guidelines Coordinator
Dominique Poumeyrol-Jumeau, Practice Guidelines Assistant.
Appendix A: Adult congenital heart disease survival simulator
Thank you for downloading this simple simulation program. It is intended to model the rate of attrition of a population, such as a particularcardiac condition for which cardiac surgery has been performed.
Because surgery has improved considerably two phases for which different mortality rates can be selected have been incorporated. You need to select a death rate per year (percent) and the length of the first phase, and then the death rate for the second phase, and the total length of follow up for both phases.
This will run in Microsoft Excel. Because there are modules of automated code, when loading the file, Excel will alert the user that the file contains Macros. This should not concern the user, but it does not have to be said that every computer user must take responsibility for using an up to date virus checker. The programme was free of virus according to the most up to date McAfee Virus Scan, but no responsibility can be taken during further distribution.
This is a non-commercial program and must not be redistributed for profit. Full copyright remains with Dr Graham Derrick (grahamderrick{at}doctors.org.uk). The source code can be made available to those who request it, with the request that any modifications are returned to Dr Derrick.
This simulation program can be consulted and downloaded from the ESC web site at the following address: www.escardio.org, in the Scientific & Clinical Information/Guidelines & Scientific Statements/Task Force Guidelines section.
Acknowledgments
Task Force Members would like to thank Dr Matthew Barnard, Consultant Anaesthetist in the Grown-Up Congenital Heart Disease Unit, Middlesex Hospital, London, UK, for his contribution to .
Our sincere thanks to Paula Hurley, Research Coordinator in the Cardiothoracic Unit at Great Ormond Street Hospital, London, UK, who has worked tirelessly in the coordination, composition and preparation of this Task Force report.
We would also like to thank colleagues, patients and their families who have provided invaluable informal advice.
Footnotes
* Address for correspondence: John Deanfield, Chairperson Task Force on GUCH of the European Society of Cardiology, GUCH Unit, The Heart Hospital, 16018 Westmorland Street, London W19 8PH. Tel.: +44-20-207-404-50-94; fax: +44-20-207-813-83-62; e-mail: j.deanfield@ich.ucl.ac.uk
Representative of the Association for European Paediatric Cardiology, UK
References