Tetralogy of Fallot is a heart defect present from birth that combines four features: a hole between the two lower chambers, a narrowed outflow to the lungs, an aorta that sits over the hole, and a thickened right ventricle. Blood low in oxygen bypasses the lungs, so babies can look blue.
It is corrected by open-heart surgery, usually in the first year of life, and the great majority of children then grow up to lead active adult lives. It is a repair and not a cure. The pulmonary valve commonly leaks afterwards, and lifelong specialist follow-up is needed, often with a valve replacement in adulthood.
Symptoms
- A bluish colour of the lips, tongue and nails, which may be mild at first
- A heart murmur found at a newborn check
- Spells of deep blueness, fast breathing and limpness, often on crying or feeding
- Tiring during feeds and poor weight gain
- Squatting after exertion in older children who have not been repaired
- In repaired adults: reduced exercise capacity, palpitations or fainting
Causes and risk factors
The defect arises in the first 8 weeks of pregnancy when the wall dividing the heart's outflow develops out of line. In most children no cause is identified. About 15 to 25 percent have a genetic condition, most often the 22q11 deletion syndrome or Down syndrome, so genetic testing is offered. Diabetes in the mother, untreated phenylketonuria, alcohol and some medicines in early pregnancy increase the risk slightly. The chance of recurrence for a sibling or for the child of an affected parent is around 3 percent.
How it is diagnosed
- Fetal echocardiogram: Many cases are recognised at the pregnancy scan, which allows delivery to be planned at a centre with heart surgery.
- Pulse oximetry and echocardiogram after birth: The echocardiogram confirms the anatomy and is normally all that is needed to plan surgery.
- ECG and chest X-ray: Supporting tests.
- CT, MRI or cardiac catheterisation: When the branch pulmonary arteries or the coronary arteries need to be defined, or in complex forms with pulmonary atresia.
- Genetic testing: For the 22q11 deletion.
- Follow-up tests after repair: Cardiac MRI to measure the size of the right ventricle, Holter monitoring and exercise testing.
Treatment options
- Management of blue spells: Bringing the knees to the chest, oxygen, morphine and beta blockers. Propranolol may be prescribed while the child awaits surgery.
- Temporary palliation: A shunt or a stent in the outflow tract or the arterial duct for very small or very blue newborns, to allow growth before full repair.
- Complete repair: Patch closure of the hole and relief of the narrowing, usually between 3 and 6 months of age, with preservation of the pulmonary valve whenever possible.
- Pulmonary valve replacement: Performed surgically or through a catheter in adolescence or adulthood, when the leaking valve causes the right ventricle to enlarge or symptoms to appear.
- Treatment of rhythm problems: Ablation, medicines or an implantable defibrillator for patients at risk.
- Lifelong follow-up: Review by a congenital heart specialist every 1 to 2 years, with pregnancy counselling for women.
When it is urgent
A baby who becomes deeply blue, breathes rapidly, goes floppy or loses consciousness is having a hypercyanotic spell. Hold the knees to the chest and call emergency services immediately. In a repaired patient, fainting, a sustained fast heartbeat or chest pain also need emergency care locally.
Travelling to Türkiye for treatment
When children's heart surgery is not available or is limited at home, travelling for complete repair is common and appropriate. Plan for about 3 to 4 weeks, including tests, the operation, intensive care and recovery before the flight, and coordinate with a paediatric cardiologist at home for the checks that follow. A blue baby may need medical clearance, oxygen or an escort to fly, and an unstable infant should be stabilised locally first. Adults with a repaired defect may travel for cardiac MRI assessment and for pulmonary valve replacement, which is a planned procedure.
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الأسئلة المتكررة
Will my child need more than one operation?
Many do. The first repair usually lasts well, but a pulmonary valve replacement is commonly needed 10 to 30 years later.
Can my child play sports after repair?
Most children can be fully active. Advice about competitive sport is given individually after exercise and rhythm tests.
What is the best age for repair?
Most centres prefer 3 to 6 months. It is done earlier if spells or severe blueness occur.
Can a woman with a repaired defect have children?
Usually yes, after a pre-pregnancy review. A significant valve leak or an enlarged ventricle may be dealt with first.