Tricuspid atresia: symptoms, surgery and outlook

In a typical heart, the tricuspid valve lets blood flow from the right atrium into the right ventricle, which then pumps it to the lungs to collect oxygen. In tricuspid atresia that valve is closed or absent. The Children’s Heart Federation explains that atresia means closed or absent, so blood low in oxygen cannot pass through the right side of the heart.

The BHF adds that the right ventricle is underdeveloped and the valve between the ventricle and the lungs may also be narrow or closed. Many people also have holes in the heart, commonly an atrial septal defect (ASD) and often a ventricular septal defect (VSD). These holes let blood cross over, which is how a baby with this condition survives, but they also let low-oxygen and high-oxygen blood mix.

Because only one ventricle works properly, the condition is often called a single ventricle or univentricular heart condition. It is a type of congenital heart disease, which means present from birth.

Symptoms depend on how much blood reaches the lungs. The Children’s Heart Federation says that if the pulmonary artery is narrowed the signs will show very early. The BHF lists the following in babies and young children:

• A blue colour to the skin or lips (cyanosis).

• A heart murmur, which a doctor can hear with a stethoscope.

• Breathlessness, including during feeds.

• Not feeding well.

• Feeling very tired.

The BHF says that tricuspid atresia will be diagnosed before birth or very soon after. An ultrasound or foetal echocardiogram can find it during pregnancy. The Children’s Heart Federation says it may be suspected when only three chambers can be seen on a scan. The NHS says congenital heart disease is screened for at the 20-week scan, but that scan cannot find every condition.

After birth, babies with symptoms usually have an echocardiogram and urgent treatment at a specialist unit or hospital. Other checks listed by the charity include pulse oximetry to measure oxygen in the blood, a chest X-ray, an ECG, blood and urine chemistry, and sometimes a heart catheter test or MRI scan.

The BHF says it is not known why tricuspid atresia happens. That uncertainty can be hard for parents. The charity points to its general information on the causes of congenital heart disease, and the NHS notes that blood tests for genetic alterations are among the tests used in congenital heart disease more generally.

Nothing in the sources I read suggests that anything a parent did or did not do during pregnancy caused it.

The BHF says treatment aims to help blood flow better through the heart, treat symptoms and manage other heart conditions. It starts at birth. The Children’s Heart Federation says the baby is moved to a paediatric cardiac unit and given medicine to keep the ductus arteriosus open. The BHF explains that this blood vessel carries blood to the lungs before birth and normally closes soon after, so keeping it open sends more blood to the lungs.

Surgery then follows in about three main stages. The table summarises the usual sequence described by the BHF and the Children’s Heart Federation. Which operations are used depends on the size of the lung arteries and the pressures within them.

The Children’s Heart Federation says the Glenn and Fontan operations are open heart surgery that uses a heart bypass machine. Hospital stays can be several weeks, with longer in intensive care or high dependency while the heart and lungs adjust to the new pressures.

Some children need diuretic medicines to clear excess fluid. In some, an anticoagulant such as aspirin or warfarin is prescribed because blood flowing at low pressure could clot. Warfarin needs regular blood tests. The charity also notes that some children develop a fast heartbeat after surgery.

The BHF says that as you get older you may need more surgery, which can include a heart transplant, and that your specialist team will explain this.

The BHF says people can live with tricuspid atresia after surgery that helps the heart work better. You may have less energy than others of your age, which can affect school, exercise and holidays. Planning the day, breaking up activities and resting regularly can help. Going to appointments matters even when you feel well.

Most people can exercise, but the BHF advises speaking to your specialist about what is safe, because some activities may need to be avoided depending on how well the heart works. The charity also says people with tricuspid atresia may have an increased risk of endocarditis, a rare heart infection, and a doctor or dentist may suggest antibiotics before or after some procedures.

The BHF says people are living longer with this condition because of advances in treatment, and encourages discussing future care with the treatment team. Support groups include Little Hearts Matter, a charity for single ventricle conditions, and Tiny Tickers.

The NHS advises calling 999 if a child or adult with congenital heart disease has lips, tongue, face or skin that suddenly turn blue or grey, has difficulty breathing or chest pain, is confused, drowsy or dizzy, has heart rhythm problems, or if a child is limp, floppy or not responding normally. On brown or black skin, colour change can be easier to see on the palms, soles, lips, gums and inside the eyelids.

For new or worsening symptoms that are less sudden, the BHF advises speaking to your doctor. People who already have a cardiac team should use the contact route they have been given.

Newborn diagnosis, the first operation and the staged surgeries are delivered by NHS paediatric cardiac centres, which concentrate expertise in babies’ heart surgery. The NHS says a person with congenital heart disease is referred to a specialist team at an NHS hospital.

Private cardiology can be used for second opinions, echocardiograms or follow-up in adulthood, but surgery for tricuspid atresia relies on specialist units with intensive care for children. Adults continue in congenital heart disease clinics.