Congenital heart disease in adults

Synonyms: adult congenital heart disease (ACHD), grown-up congenital heart (GUCH) disease

With improvements in care and a decrease in child mortality associated with congenital heart disease, there are an increasing number of adults with congenital heart disease. The definition is the persistence of any structural abnormality present at birth that involves the heart and/or great vessels in adult life (beyond 16 years of age). Arrhythmia and cardiomyopathies are not included in this definition.¹

Congenital heart disease includes:

• Fallot's tetralogy.

• Transposition of the great arteries.

• Atrial septal defect (ASD).

• Ventricular septal defect.

• Coarctation of the aorta.

• Valvular defects (aortic stenosis, aortic regurgitation, mitral stenosis, mitral regurgitation; congenital right heart valve disease is very much rarer).

• Patent ductus arteriosus.

• Cardiomyopathies.

• Primary pulmonary hypertension.

See also the article on Congenital Heart Disease in Children.

How common is congenital heart disease? (Epidemiology)²

The prevalence of congenital heart disease worldwide is about 9 per 1000 births, with substantial geographic variation.

While the prevalence of severe congenital heart defects is declining in many Western/developed countries due to fetal screening and pregnancy termination, overall prevalence on a global scale is increasing.

Due to medical, surgical, and technological improvements over the past decades, over 90% of individuals who are born with congenital heart disease now survive into adulthood. As a result, the prevalence of adult congenital heart disease has increased and now by far exceeds the number of children with congenital heart disease.

Investigations²

The diagnostic workup will depend on the individual presentation but will include:

• Initial ECG, chest X-ray and routine blood tests such as full blood count and renal function.

• Echocardiography.

• Cardiovascular magnetic resonance imaging.

• Cardiovascular computed tomography.

• Cardiopulmonary exercise testing.

• Biomarkers: serial testing of natriuretic peptides plays a role in identifying patients at risk for adverse events.

• Further investigations as applicable, eg, cardiac catheterisation.

Congenital heart disease treatment and management²

See also the links above for specific congenital heart defects, including management.

Management considerations will include:

• Heart failure: the development of heart failure is a common problem affecting 20-50% of the adult congenital heart disease population, and is a main cause of death.³

• Management of cardiac arrhythmias, and reduction of risk of sudden cardiac death.

• Pulmonary hypertension: an important prognostic factor in patients with congenital heart disease, requiring particular attention in pregnancy or prior to reparative cardiac or other major surgery.

• Cardiac surgery and/or catheter intervention.

• Prevention of infectious endocarditis.

• Antithrombotic treatment.

• Management of cyanotic patients.

Heart transplantation in adults with congenital heart disease is often challenging, because of several potential problems: complex cardiac and vascular anatomy, multiple previous palliative and corrective surgeries, and effects on other organs (kidney, liver, lungs) of long-standing cardiac dysfunction or cyanosis, with frequent elevation of pulmonary vascular resistance.⁴

Pregnancy²

The majority of women with adult congenital heart disease will tolerate pregnancy well, but some with complex congenital heart disease have higher risks. Pre-pregnancy counselling should be provided to all women with congenital heart disease. Specialist care is best provided in a multidisciplinary team setting by a Pregnancy Heart Team, with input from cardiology, obstetrics, anaesthesia, and, where necessary, from other specialists, including clinical geneticists.

Maternal mortality is 0-1% and heart failure complicates pregnancy in 11% of women with heart disease, with pulmonary hypertension being associated with the highest risks. Cyanosis poses a significant risk to the fetus, with live birth unlikely (below 12%) if oxygen saturation is below 85%.

Women with cardiac disease also have an increased risk of obstetric complications, including premature labour, pre-eclampsia, and postpartum haemorrhage.

Contraception²

Contraception should be discussed with specific attention to effectiveness and safety.
Hormonal contraceptives are highly effective, but there are few data on their safety in the adult congenital heart disease population.

The combined oral contraceptive is best avoided in patients with a preexisting thrombotic risk (cyanosis, Fontan physiology, mechanical valves, prior thrombotic events, pulmonary hypertension), especially as there are few data to suggest that concomitant oral anticoagulation therapy will negate this risk. Progesterone-only contraceptives do not pose such a high thrombosis risk.

The risk of endocarditis after insertion of progesterone-coated intrauterine devices is probably low. However, there is a risk of vasovagal reactions (5%) at the time of insertion or removal. Patients with a fragile physiology (eg, patients with a Fontan circulation, pulmonary hypertension, cyanotic congenital heart disease, Eisenmenger syndrome) should have their intrauterine device inserted/removed in a safe environment with expertise in adult congenital heart disease).

Female sterilisation or male partner sterilisation should only be considered after careful discussion, with particular reference to long-term prognosis.

Assisted reproduction has added risks above those of pregnancy alone, and consultation with an adult congenital heart disease specialist must be performed before treatment.

Genetic counselling and recurrence risk²

Genetic counselling, whether supplemented with further genetic testing or not, should at least be considered for every adult congenital heart disease patient. Demonstrating a genetic abnormality can be important to further adjust the patient’s own management and is also important for family planning. It is estimated that 10-30% of all structural congenital heart disease would have a genetic basis. This rate is higher in cases of associated organ disorders and familial occurrence, and lower in isolated cases.

Exercise and sports²

Recommendations for exercise and sports need to be based on the underlying congenital heart defect and its potential complications, the haemodynamic and electrophysiology status of the patient, and their pre-existing fitness.