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Practice Clinical updates

Congenital heart disease in adults

BMJ 2016; 354 doi: https://doi.org/10.1136/bmj.i3905 (Published 28 July 2016) Cite this as: BMJ 2016;354:i3905 infographic showing six different chest scars, and the related surgical techniques.
  1. Bejal Pandya, consultant cardiologist,
  2. Shay Cullen, consultant cardiologist,,
  3. Fiona Walker, consultant cardiologist
  1. Grown-up Congenital Heart disease (GUCH) Clinic, Barts Heart Centre, St Bartholomew’s Hospital, London
  1. Correspondence to: F Walker fiona.walker{at}bartshealth.nhs.uk

What you need to know

  • Adults with congenital heart disease are generally reviewed annually by a specialist congenital cardiologist

  • Before general anaesthesia, ensure patients are reviewed by a specialist congenital cardiologist

  • Do not routinely offer regular venesections to patients with cyanosis

  • Offer women with congenital heart disease preconception counselling by a specialist congenital cardiologist

  • Progesterone only contraception is safe for all women with congenital heart disease

  • Adults with congenital heart disease are highly susceptible to infective endocarditis

Heart disease is the most common birth defect, affecting nine in 1000 babies born in the United Kingdom. The spectrum of the underlying lesions ranges from a simple septal defect to more complex structural abnormalities. Most of those born with cardiac defects lead active lives and survive well into late adulthood. These adults with congenital heart disease have often had previous surgical corrections or percutaneous catheter treatments and are left with residual structural defects, valve lesions, or ventricular dysfunction. Most therefore require lifelong specialist congenital cardiology follow-up to identify when re-interventions are necessary. Those with highly complex disease are usually reviewed annually, with the frequency of follow-up determined by clinical status and severity of any residual problems.

NHS England has recently completed a review on the care of patients with congenital heart disease.1 Specialist centres have been evaluated against agreed standards and designated or commissioned accordingly, in order to provide varying levels of care across a geographical network. This review provides practical advice for non-specialists to help understand the longer term problems associated with congenital heart disease and how these are managed.

Sources and selection criteria

We carried out an electronic search through PubMed and Medline using the terms “ACHD” [adults with congenital heart disease] and “GUCH” [grown ups with congenital heart disease]. We also used personal archives, our experience, and relevant guidelines from the European Society of cardiology, American college of Cardiology, and Royal College of Obstetricians and Gynaecologists.

What are the usual clinical findings in adults with congenital heart disease?

Findings on clinical examination may differ between adults with congenital heart disease. Table 1 lists the common variants. The infographic shows which scars are associated with different types of surgery.

Table 1

Typical, abnormal, and atypical findings in adults with congenital heart disease

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Figure1

Fig 1 Various types of repair of coarctation of the aorta

Figure2

Fig 2 Fontan circulation with fenestration. The Fontan operation is undertaken if there is tricuspid valve atresia that also results in hypoplasia of the right ventricle. The right heart is essentially bypassed so that there is no subpulmonary ventricle and blood flows passively into the pulmonary artery

The electrocardiogram usually shows sinus rhythm, with a normal PR interval. However, axis deviation is common after surgical corrections due to conduction abnormalities and rotation of the heart after manipulation. Figures 3 and 4 shows typical electrocardiographic findings in adults with congenital heart disease.

Figure3

Fig 3 Top electrocardiographic trace shows right bundle branch block where there is a predominantly positive QRS in V1, V2, and V3 with notching (RsR pattern) and broadening of the QRS complex (>120 ms duration). Bottom trace shows left bundle branch block where there is broadening and notching of the QRS (>120 ms). Note the QRS progression is normal, being predominantly negative in V1 and changing to positive in V6

Figure4

Fig 4 Top electrocardiographic trace shows right axis deviation whereby QRS is negative in lead 1, there is also right ventricular hypertrophy whereby QRS complex in V1 is predominantly positive and of high amplitude. Bottom trace shows right axis deviation whereby the QRS in lead 1 is predominantly negative and there are ST/T wave changes but these are chronic and do not represent ischaemia

Box 1 lists the symptoms that should prompt discussion with a specialist.1

Box 1: Red flag symptoms in patients with congenital heart disease

  • Progressive or paroxysmal breathlessness—consider new onset of arrhythmia

  • Palpitations—consider new arrhythmia or deteriorating valve or ventricular function

  • Fevers, malaise, weight loss—consider infective endocarditis until proved otherwise

  • Rapidly increasing weight or peripheral oedema—consider arrhythmias or heart failure

What imaging is most helpful for routine assessment during follow-up?

Most adults with congenital heart disease are asymptomatic, therefore imaging and functional tests are used to assess the progression of disease and monitor residual lesions (eg, ventricular function or valve regurgitation). Several advanced imaging techniques are widely used (box 2), which can evaluate repaired or newly presenting congenital heart disease.1 Although the majority of these imaging modalities are available in most hospitals, the skills for image acquisition and interpretation are only available in units specialising in congenital heart disease.

Box 2: Advanced imaging techniques for congenital heart disease

  • Echocardiography—transthoracic echocardiography (TTE) is the mainstay for routine assessment and surveillance of adults with congenital heart disease. TTE can make a qualitative assessment of ventricular function, and Doppler echocardiography assesses the severity of haemodynamic or valve lesions. Tricuspid regurgitation jet can be used to estimate right heart pressures. TTE is done at each clinic review. With TTE, ultrasound has to penetrate between ribs and through the chest wall, therefore fat and heavy set chest musculature is a barrier to good image quality. If TTE images are poor, transoesophageal echocardiography (TOE) is an alternative, where the ultrasound probe is placed within the oesophagus, with little or no barrier to ultrasound penetration. TOE may require general anaesthesia

  • Cardiovascular magnetic resonance imaging (CMRI)—CMRI provides 3D and 4D (real time blood flow) imaging. It is accurate for defining morphology and quantifying ventricular function.2 3 If CMRI is contraindicated owing to the presence of metallic implants or implantable electronic devices (pacemakers, defibrillators), then computed tomography (CT) is an alternative for providing 3D images

  • CT—current CT scanners, electron beam CT (EBCT), or multislice spiral CT have a fast image acquisition time, which reduces scan time and therefore radiation dose. CT only provides qualitative (observational) rather than quantitative (volumes, ejection fractions %) data. CT uses ionising radiation, with doses between 1.0 mSv and 9.0 mSv, and must be used judiciously as patients potentially require several scans over their lifetime4

What types of lesions are diagnosed?

Many congenital heart disease lesions will be diagnosed and repaired in childhood. Some, however, are diagnosed for the first time in adults, especially atrial septal defects and coarctation of the aorta.

Atrial septal defect (ASD)

An atrial septal defect is a hole in the atrial septum, which allows blood to shunt from the left to right atrium. This causes right heart volume overload and dilatation. Secundum atrial septal defect is one of the commonest types, with other forms including sinus venosus atrial septal defect and primum atrial septal defect (fig 5). Closure of an atrial septal defect is indicated if there is right heart dilatation and the oxygen saturation and pulmonary vascular resistance is normal. Symptoms are subtle and include breathlessness, fatigability, and exercise intolerance. Atrial septal defects can be closed surgically (all forms) or percutaneously with a device (secundum atrial septal defect only, fig 6). Percutaneous and surgical closures are low risk interventions, if there are no major comorbidities such as coronary disease or renal impairment. There is no upper age limit for closure of an atrial septal defect. After closure there is a risk of atrial fibrillation, stroke, and heart failure, as with late or adult diagnosis there is often severe enlargement of the right atrium and right ventricle, which may persist.5

Figure5

Fig 5 Various types of atrial septal defects. The terms refer to anatomical regions within the atrial septum

Figure6

Fig 6 Closure of secundum atrial septal defect using percutaneous device

Ventricular septal defect (VSD)

Ventricular septal defects allow shunting of blood from the left to right ventricle. When diagnosed incidentally in a healthy asymptomatic adult, these defects are often small or restrictive and of no haemodynamic relevance. The main risk to health is an increased susceptibility to infective endocarditis, most likely from an oral source. It is therefore good practice to remind patients to maintain good dental hygiene.6 If a large ventricular septal defect is present in adults, it will cause volume loading and dilatation of the left ventricle. If a large defect is present from childhood, this will cause pulmonary hypertension and Eisenmenger’s syndrome (see box 3).

Box 3: Mechanisms underlying cyanotic congenital heart disease

  • Eisenmenger’s syndrome—an uncorrected left to right intracardiac shunt (eg, ventricular septal defect) causes a high pulmonary vascular resistance, shunt reversal, and desaturation

  • Palliative surgeries—these create systemic (aorta) to pulmonary arterial shunts (fig 10)

  • Complex congenital heart disease lesions, whereby a biventricular repair is not possible, leading to a “mixed circulation” of saturated and desaturated blood and single ventricle physiology

Figure7

Fig 10 Various palliative shunt operations

Patent ductus arteriosus (PDA)

The ductus arteriosus is a connection between the pulmonary artery and aorta, which is present in the fetal circulation. If it remains patent, it can cause dilatation of the left ventricle. A continuous murmur may be heard. Symptoms are generally absent, although some report palpitations and awareness of a rapid heart rate. Closure is indicated if left ventricular dilatation is present. Most can be closed percutaneously with a device.

Coarctation of the aorta (CoA)

Coarctation of the aorta is a narrowing of the aorta, distal to the origin of the left subclavian artery. Consider this condition if systemic hypertension is detected in a young adult (<40 years). The femoral pulses may be absent or weak. Relief of coarctation of the aorta is indicated if there is systemic hypertension or a more than 50% luminal narrowing, or both, and can usually be achieved by percutaneous stenting. Symptoms are generally absent, although leg claudication may occur with severe coarctation.

Pulmonary stenosis (PS)

Congenital pulmonary stenosis might be subvalvular, at valve level, or supravalvular. In adults it is often diagnosed when an incidental ejection murmur is heard and echocardiography detects outflow tract obstruction. The condition is usually asymptomatic, but if there is severe obstruction then breathlessness, syncope, or presyncope might occur. Consider treatment in patients with symptoms or severe pulmonary stenosis (peak gradient >70 mm Hg), or both. Valvular stenosis can be relieved by percutaneous balloon dilatation, whereas subvalvar and supravalvar stenosis require surgical correction.

Which repaired lesions are seen and how are they managed?

A wide spectrum of repaired lesions are seen in adults, ranging from simple repairs such as patch closure of an atrial septal defect, to the creation of highly complex circulations such as the Fontan palliation (fig 2). The most commonly encountered repaired lesions are:

Atrial and ventricular septal defects (ASD)

Repairs in infancy are generally curative. Patients do not require long term follow-up unless there is residual left ventricular dilatation (in case of ventricular septal defect) or right ventricular dilatation (atrial septal defect).

Atrioventricular septal defect (AVSD)

Late complications in patients with repaired atrioventricular septal defects include progressive left atrioventricular valve regurgitation, subaortic stenosis, and atrioventricular block. At specialist follow-up, patients undergo echocardiography to assess the atrioventricular valves, and routine electrocardiography for atrioventricular conduction. Approximately 15% of patients require repeat surgery.7

Tetralogy of Fallot (TOF)

Surgical repair of tetralogy of Fallot (fig 7) in infancy or childhood incorporates patch closure of ventricular septal defect, resection of the infundibular septum, and transannular patch augmentation of the right ventricular outflow tract. All of those who undergo transannular patch augmentation have residual severe pulmonary regurgitation, and pulmonary valve implantation is needed during follow-up.8 9 10 11 Late complications include ventricular (4%) and atrial arrhythmias (3%), heart failure, and sudden death (2%); therefore all patients need specialist lifelong follow-up.

Figure8

Fig 7 Repair of tetralogy of Fallot with transannular patch. The ventricular septal defect is closed with a patch and the subpulmonary stenosis is relieved with a patch across the subpulmonary area and pulmonary artery

Coarctation of the aorta (CoA)

Adults with previous surgical repair of coarctation of the aorta might have had a variety of surgical procedures (see infographic). Re-coarctation can occur in all types of repair, whereas aneurysm formation is more common in those who undergo repair by a Gore-tex patch aortoplasty. Consider re-coarctation in those with new hypertension or worsening hypertension.

Transposition of the great arteries

In transposition of the great arteries, the aorta arises from the right ventricles and the pulmonary artery from the left ventricles. There are two types of surgical repair. Before 1980, an atrial switch repair was performed (the Mustard or Senning operations, fig 8). This involved complex intracardiac suturing to create tunnels (baffles), which redirect systemic and pulmonary venous return. The right ventricle remains subaortic, supporting systemic cardiac output. Late complications include right ventricular dysfunction, heart failure, and arrhythmias. In the 1980s, the arterial switch became the repair of choice (fig 9), restoring normal anatomy with a subaortic left ventricle. The coronaries are reimplanted, so late complications include ostial coronary stenosis and neovalvular regurgitation. Anyone who undergoes transposition of the great arteries requires lifelong specialist follow-up.

Figure9

Fig 8 Atrial switch (Mustard) repair of transposition of the great arteries. Blood flow is diverted through surgically created tunnels (baffles) in order to physiologically correct blood flow so that desaturated blood flows into the pulmonary artery and oxygenated blood flows into the aorta

Figure10

Fig 9 Arterial switch repair of transposition of the great arteries. This provides an anatomical correction whereby the great vessels are transposed and the native pulmonary valve becomes the valve for systemic outflow and the aortic valve becomes the valve for outflow to the pulmonary artery. This procedure also requires re-implantation of the coronary arteries

Is antibiotic prophylaxis required against infective endocarditis?

Data from randomised controlled trials are lacking on the use of antibiotic prophylaxis in congenital heart disease, and guidelines vary between the UK, Europe, and North America (table 2). Concerns have been raised about the UK National Institute for Health and Care Excellence guidelines,12 which have more or less abandoned antibiotic prophylaxis. Patients with congenital heart disease are a highly susceptible group (table 3).12 Many specialists still recommend prophylaxis for specific patients; our own service recommends prophylaxis with mechanical valves and for those with a history of endocarditis. Good oral hygiene should be reiterated for all patients.13 14 A high index of suspicion and low threshold for taking blood cultures in this patient population is also advised because treating infective endocarditis after oral antibiotics leads to a much more protracted and potentially worse outcome.

Table 2

Guideline recommendations for antibiotic prophylaxis against infective endocarditis in adults with congenital heart defects

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Table 3

Risk of endocarditis according to NICE guidelines

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How are patients with cyanotic congenital heart disease managed?

Cyanosis is defined as a deoxygenated haemoglobin concentration of more than 50 g/L, and peripheral oxygen saturations are often less than 85%. Patients have central and peripheral cyanosis with finger clubbing and are susceptible to cerebral abscesses, arrhythmias, and heart failure. Different mechanisms underlie cyanotic congenital heart disease (box 3).

Clinically, there is erythrocytosis and increased haemoglobin levels (often >200 g/L). There is a prothrombotic (due to polycythaemia) and bleeding tendency (dysfunctional low platelet levels). Patients are susceptible to venous thromboembolism as well as epistaxis and increased bleeding after surgical procedures. Venesection is not indicated unless symptoms of hyperviscosity such as headache, myalgia, or blurred vision are intolerable and the haematocrit is more than 65%.15 Iron deficiency can occur with venesection, leading to microcytosis, which is associated with adverse outcome. Oral or intravenous iron supplementation may be needed to maintain normal red cell indices. General anaesthesia and pregnancy are high risks for this patient group.

How does congenital heart disease affect women’s health?

Contraception advice

Congenital heart disease lesions with residual chamber dilatation are associated with atrial or ventricular dysrrhythmias, or both. This increases the risk of thromboembolism and means that for many women, contraceptives with oestrogen are best avoided (table 4). Progesterone only contraceptives are in the main safe and preferred, especially for those with more complex congenital heart disease—eg, Fontan and people with cyanosis (table 5).16

Table 4

Risk from use of combined oral contraceptives in women with congenital heart disease

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Table 5

Cardiovascular risk of progesterone only contraceptive methods

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Advice in pregnancy

Most women with congenital heart disease have their babies at term and can have normal vaginal deliveries. However, there is a 4-5% increased risk of congenital heart disease in babies born to mothers with the condition. In some diseases, the risk of recurrence is as high as 10-50% (eg, Shone syndrome, 22Q11 deletion). Women with congenital heart disease who are considering pregnancy should receive preconception counselling by a specialist congenital cardiologist. During the preconception review, pregnancy risk according to the mother’s condition and the likely obstetric outcomes are discussed. This helps women make an informed decision about whether to embark on pregnancy. The European Society of Cardiology has published guidelines for managing pregnancy in women with heart disease and the risk in various cardiac disorders (table 6).17 During pregnancy, cardiology care and antenatal care are coordinated and planned according to the complexity of the heart disease. Most women are seen as a minimum every trimester. Most pregnant women with congenital heart disease feel more breathless and report palpitations more often than usual; however heart failure and dysrhythmias are uncommon unless the women have been lost to follow-up.

Table 6

Pregnancy risk in various heart disorders

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How patients were involved in creating this article

This article was submitted before we asked authors to involve patients and report any contributions.

Additional educational resources

Resources for healthcare professionals

Heart disease in pregnancy. In: O’Brien P, Walker F, eds. Clinical obstetrics and gynaecology, Vol 28, No 4. Best Practice & Research, Elsevier, May 2014.

Diagnosis and management of adult congenital heart disease, 3rd ed. Gatzoulis M, Webb G, Daubney P, eds. Elsevier, 2016.

Oxford specialist handbook: adult congenital heart disease. Thorne S, Clift P, eds. Oxford University Press, 2009.

Resources for patients

The Somerville Foundation UK (www.thesf.org.uk)—UK website with patient advice and information on congenital heart disease.

Canadian Congenital Heart Disease Network (www.cachnet.org)—Canadian website with patient advice and information on congenital heart disease.

The Somerville Foundation. Pregnancy advice (www.thesf.org.uk/documents/flyers/tsf_pregnancy_dl_web.pdf)—pregnancy information leaflet for patients.

Education into practice

  • Have your adult patients with congenital heart disease had at least one specialist congenital cardiology review within the past 24 months?

  • Have your adult patients with repaired or unrepaired congenital heart disease lesions been offered follow-up at a designated specialist unit?

Footnotes

  • Contributors: FW planned the manuscript and all authors drafted the manuscript, commented on further drafts, and approved the final version. FW was commissioned to write the article and is guarantor.

  • Competing interests: We have read and understood the BMJ policy on declaration of interests and declare: none.

  • Provenance and peer review: Commissioned; externally peer reviewed.

References

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