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Assoc. Prof Julie De Backer ,
Prof. Werner Budts ,
Patients with adult congenital heart disease (ACHD) form a separate group within cardiology, a group with which general cardiologists often do not feel very familiar. With “The Eight Commandments” we want to provide more clarity about common events or problems that may occur in these patients and how best to deal with them.
Congenital heart disease (CHD) comprises structural abnormalities of the heart and/or large vessels. Congenital heart defects are the most common birth defects, which are diagnosed in 0.9% of new-borns . The anatomical complexity of these lesions covers a wide spectrum of severity, from very mild (for example, isolated small atrial or ventricular septal defects) to highly complex (for example, univentricular hearts). Thanks to progress in medical, interventional, and surgical treatment, the survival of CHD patients has improved and >90% of them now grow into adulthood. This has resulted in a fast-expanding adult CHD (ACHD) community which now surpasses the paediatric CHD population  in most developed countries.
Although the management of patients with milder lesions looks straightforward, complication-free outcome is, unfortunately, not always the case. General cardiologists must be aware of this and need to recognise the very complex status in which some patients end up. Being prepared, essentially through acquiring some basic knowledge of these lesions, their outcome and the associated complexity, is of utmost importance and is the main purpose of this paper.
Much more pronounced than in acquired cardiovascular disease, most CHD lesions will display some degree of both haemodynamic and electrical abnormalities which mutually interact. Moreover, patients who had surgery in childhood should never be considered as “corrected”, but as “repaired”. Several CHD patients still have residual lesions or sequelae from previous interventions. These may lead to an increased risk for arrhythmia and/or heart failure which requires a specific patient-tailored therapeutic approach. In contrast to acquired heart disease, strong evidence to guide treatment in these settings is often lacking, and strategies validated by large clinical trials in acquired cardiac disease can often not be simply translated to the ACHD setting.
Since ACHD patients are much younger than the average patient seen by general cardiologists, specific aspects related to young age come into play. These include contraception, pregnancy, recurrence risk for offspring, participation in sports, insurance issues and employment. In general, ACHD patients should be considered as suffering from a chronic disease process.
We would like to propose “The Eight Commandments” for the general cardiologist to take into account when dealing with ACHD patients. We provide a brief explanation and some typical examples for each of them.
Obtaining details from medical, interventional and surgical records in ACHD patients is crucial in order to understand the underlying anatomical defect(s), current symptoms and clinical findings.
Given the young age of the population, long-term outcome data for many ACHD lesions are scarce. This sometimes makes it difficult to counsel these patients properly about their future perspectives, including the setting of family planning, insurance issues, and professional activities.
Fortunately, for some lesions, such as aortic coarctation, longer-term outcome data are available. Aortic coarctation is commonly regarded as “mild” but might have important consequences in adulthood. The most common ones are related to poorly controlled arterial hypertension. Aneurysm formation at the coarctation site is another complication that might occur even without symptoms and hence requires proper imaging for detection [3,4].
Some CHD lesions are frequently associated with other congenital abnormalities. Knowledge of both the associated lesions and the haemodynamic consequences of the primary lesion is important.
Examples of associated lesions:
Examples of the haemodynamic consequences of the primary lesion are:
In addition to the aforementioned haemodynamic consequences, arrhythmias may also occur, both in patients with previous repair as in those without previous repair. The entire spectrum of rhythmic disorders (atrial/ventricular, bradycardia/tachycardia) is encountered in ACHD patients and requires special attention. The anatomy of the heart and vessels needs to be taken into account when invasive treatment is required. The underlying and potentially triggering haemodynamic problems need to be carefully explored and treated when needed .
A final aspect that needs specific attention is that a subset of CHD lesions may be part of an underlying genetic abnormality (both chromosomal and monogenetic). While this may be obvious and diagnosed in childhood, in many cases (especially when syndromic, such as Noonan syndrome [pulmonary valve stenosis] or Williams-Beuren syndrome [supravalvular aortic stenosis]), the genotype and phenotype may be more subtle. With advances in techniques for genetic testing, detection ratios have increased and referring patients for counselling and testing at adult age should be considered, especially in the setting of family planning .
Most CHD lesions require specific imaging techniques. Transthoracic echocardiography is the most commonly used imaging technique in the follow-up of CHD patients. However, to measure volumes and function of the right ventricle and to estimate the degree of left-to-right shunt, cardiac magnetic resonance imaging remains the gold standard. For atrial septal lesions, transoesophageal echocardiography is preferred. A computed tomography scan is recommended to visualise more anatomical details (e.g., implantation of coronary arteries after arterial switch repair).
ACHD patients are at increased risk for cardiovascular emergencies but may also present with common medical emergencies. They may not always – in some regions even mostly not – be admitted to a centre with sufficient ACHD expertise. General cardiologists need a basic knowledge of how to deal with these situations. Some important messages include:
In addition to the need for proper and timely counselling of ACHD patients (women and men) about the recurrence risk when they contemplate pregnancy, women with CHD need to be counselled about the health risk the pregnancy itself may incur. Indeed, pregnancy imposes an important haemodynamic stress on the cardiovascular system and, in some cases, this will not be well tolerated. Haemodynamic changes develop even in the early stages of pregnancy (increased cardiac output, increased heart rate, etc.), but most problems will occur in the last trimester, during labour or in the post-partum period.
Assessment of the anatomic and functional status prior to pregnancy is essential. Medication needs to be carefully reviewed and, in some cases, switched prior to or shortly after conception. This is, for example, the case for angiotensin-converting enzyme inhibitors and vitamin K antagonists.
The pregnancy risk can be assessed based on the modified World Health Organization (WHO) classification system, according to which the management and the referral to tertiary centres should be considered . Couples also need to be aware of impaired foetal outcome in some cases. Most importantly, parents-to-be need to be informed about their own outcome and the impact this may have on the upbringing of a child.
The final and most important commandment in this list is to seek expert opinion whenever in doubt or when confronted with complex lesions with which general cardiologists have little experience. A shared care approach has proven benefits in many of these lesions. Referral of more complex cases to specialised ACHD centres is often the most appropriate approach.
Within cardiology, ACHD patients are a relatively new but fast-growing group of patients with specific needs and concerns. Depending on the complexity of their condition, highly specialised care for these patients may or may not be required. This does not alter the fact that a number of patients – whether or not according to a shared care model – can also be followed by the general cardiologist. Moreover, patients with more complex lesions can also be presented to the general cardiologist, often in the setting of an urgent medical problem. Since someone who is prepared is better able to solve problems adequately, some basic knowledge is strongly recommended.
In ACHD we must assume that no patient can be considered "cured" and that new or residual problems can arise (also in the very long term). In this context, heart failure and arrhythmias are common problems that require a specific approach which often deviates from general cardiology. In addition, specific problems often occur in this young population, with which a general cardiologist is less familiar. Collaboration with and referral to specialised centres is essential in this context.
Julie De Backer1, MD, PhD, FESC; Werner Budts2,3, MD, PhD, FESC
Associate Professor J. De Backer, Department of Cardiology, Ghent University Hospital, C. Heymanslaan 10, 9000 Ghent, Belgium
The authors have no conflicts of interest to declare.
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