Congenital heart disease: symptoms, types, diagnosis and treatment

The British Heart Foundation (BHF) describes congenital heart disease as a fault or problem with the heart that is there from birth, developing in the womb before a baby is born. The NHS says it develops while the heart is still being formed inside the womb.

The condition ranges widely. Some people have a minor problem that is found by chance, while others need major surgery in infancy. Because of this, the NHS and BHF both stress that treatment varies by type.

The NHS says there are many different types and that treatment will vary depending on the type. Some types can have an immediate effect on the body and need surgery soon after birth. Other types, such as a hole in the heart, can often be left untreated.

The BHF lists many types, including aortic valve stenosis, atrial septal defect, atrioventricular septal defect, coarctation of the aorta, Ebstein's anomaly, hypoplastic left heart syndrome, patent ductus arteriosus, pulmonary valve stenosis, tetralogy of Fallot, transposition of the great arteries, tricuspid atresia, truncus arteriosus and ventricular septal defect. It adds that you may not know which type you have, especially if you were diagnosed before birth or shortly after, and suggests asking your doctor about your diagnosis.

The NHS says symptoms may be present from birth and in childhood: difficulty feeding, being slow in putting on weight and growing, and swelling around the tummy and swollen hands, ankles and feet.

Sometimes symptoms do not appear until you are a teenager or adult. The NHS lists feeling tired all the time, shortness of breath, being sweatier than usual with cool and clammy skin, heart palpitations, and areas of the skin and lips turning blue or grey (cyanosis), which may be easier to see on black or brown skin by checking the palms, soles, lips, gums and inside the eyelid. It is common to have a heart murmur, which a doctor can diagnose using a stethoscope.

The BHF says you may have no symptoms at all, and that babies may have trouble feeding.

The NHS says you need to get medical help immediately if you think you or your child have symptoms of congenital heart disease.

• Call 999 if lips, tongue, face or skin suddenly turn blue or grey, or if you or a child has difficulty breathing, chest pain, confusion, drowsiness or dizziness, or heart rhythm problems such as the heart beating too quickly or without a steady beat.

• Call 999 if a child is limp, floppy or not responding like they normally do.

• Ask for an urgent GP appointment or get help from NHS 111 if you think you or a child may have symptoms. Call 111 for advice about a child under 5 years old.

• Do not drive yourself to A&E; the 999 call handler will give advice.

The NHS says congenital heart disease is screened for during the 20-week pregnancy screening scan. That scan cannot find all conditions, so it is possible for congenital heart disease to be missed, and sometimes it is not diagnosed until you are an adult.

The BHF says that if a problem is suspected after the 20-week scan you will be asked to have another scan with an obstetrician, a fetal medicine specialist and a specialist in cardiac and child medicine. After birth, babies may be diagnosed soon if there are clear symptoms such as a blue colour to the skin or lips, or if a heart murmur is heard during checks. Sometimes it is not diagnosed for months or years because some types do not cause noticeable symptoms.

The NHS lists tests for children and adults: a pulse oximetry test (oxygen in the blood), electrocardiogram (ECG), chest X-rays, scans such as MRI and echocardiogram, blood tests to check for genetic alterations, and angiography.

The NHS says that if you or your child are diagnosed you will be referred to a specialist team at an NHS hospital. You or your child may only need regular check-ups, and treatment may only be needed if symptoms get worse. The BHF says treatment depends on the type of heart condition and how serious it is, and that some heart conditions can be treated before birth, in the womb.

Medicines the NHS lists include digoxin (to strengthen the heartbeat and increase oxygen in the blood), diuretics (to reduce fluid build-up), ACE inhibitors (to improve blood flow) and anti-arrhythmics (to help control an irregular heartbeat). Depending on the condition, you may need surgery as soon as you are born or much later in life. The NHS lists keyhole surgery and open heart surgery, and in rare cases a heart transplant or a heart and lung transplant.

The NHS says having congenital heart disease can affect your life in many ways. For some people it may just mean regular check-ups, while others have symptoms that limit what they can do. It advises keeping your heart and lungs as healthy as possible: aim for a healthy weight and a healthy diet, look after your teeth and have regular dental check-ups because gum infections can cause complications, stay physically active (your care team can advise on a safe level), and do not smoke, vape or use illegal drugs or drink large amounts of alcohol.

The NHS notes complications can include heart failure, endocarditis (a rare type of heart infection), pulmonary hypertension and stroke. If the condition affects your mental health, talk to your care team.

The BHF says that as children get older they move into adult care and see a different team, and suggests writing down questions about exercise, diet, alcohol, driving, school or work, holidays and flying, sex, having children and support available.

The NHS says sometimes problems with the heart are caused by an altered gene passed on from a parent, but often there is no clear reason. If you are pregnant, you may be more likely to have a baby with congenital heart disease if you are living with obesity, smoke or are exposed to second-hand smoke, have gestational diabetes, or get an infection such as rubella. The BHF also lists a family history, diabetes before or during pregnancy, certain medicines taken in pregnancy, drinking, and lupus.

The BHF says if you are pregnant and worried about any medicine you are taking, speak to your doctor or midwife. The NHS says if you have congenital heart disease and are pregnant or trying to get pregnant, tell your care team, who can advise on how to make the pregnancy as safe as possible.

On the NHS, congenital heart disease is usually picked up on a pregnancy scan or newborn examination and managed by a children's cardiology service, with transition to an adult congenital heart disease service later. Some adults seek a private cardiology opinion, but because many treatments need specialist congenital services, your GP and specialist team should stay involved either way.