Tetralogy of Fallot Treatment in Delhi, India

The causes of Tetralogy of Fallot are unknown, however the condition is characterised by a combination of these four heart related defects that mainly occur together. 

• Ventricular Septal Defect (VSD): Presence of a hole near the septum between the right and left chambers of the heart.
• Overriding Aorta: The aortic valve is enlarged and seems to arise from both the left and right ventricles of the heart instead of the left ventricle as in normal hearts. The aorta is responsible for carrying oxygen-rich blood from the heart to the rest of the body. In this condition,the aorta gets blood from both sides of the heart so that oxygen-poor blood from the right ventricle gets mingled with oxygenated blood from the left ventricle.
• Pulmonary Stenosis: Narrowing of the pulmonary valve and outflow tract or region below the valve that creates a blockage of blood flow from the right ventricle to the pulmonary artery
• Right Ventricular Hypertrophy: Thickening of the muscular walls of the right ventricle, which happens because the right ventricle is functioning at high pressure.

In some cases, children with Tetralogy of Fallot may also present additional ventricular septal defects, an atrial septal defect (ASD) , or abnormalities in the branching pattern of their coronary arteries. Some patients with this condition have complete obstruction to flow from the right ventricle or pulmonary atresia. At times, it may be associated with chromosomal abnormalities, such as 22q11 deletion syndrome.

These defects, which are responsible for altering the structure of the heart, make oxygen-poor blood pump out of the heart towards the rest of the body. Infants and children with this condition usually exhibit blue-tinged skin as their blood doesn't carry adequate oxygen.

Tetralogy of Fallot is generally diagnosed while the baby is an infant or at times soon after. In certain cases, based on the severity of the defects and symptoms, the Tetralogy of Fallot is not detected until adulthood.

While the exact cause of this condition is not known, certain things tend to increase the chances of a newborn baby being born with this condition. Risk factors comprise:

• A viral illness during pregnancy, like Rubella (German measles)
• Consumption of alcohol during pregnancy
• Poor nutrition during the pregnancy phase
• A mother older than 40 years of age
• A parent who has this condition
• The presence of Down syndrome in the baby

The signs and symptoms comprise of:

• Bluish colouration of the skin because of low blood oxygen levels
• Dyspnoea and episodes of rapid breathing, especially while feeding or during exercise
• Weight gain
• Feeling lethargic and frequently tiring while playing or exercise
• Irritability
• Prolonged crying
• Heart murmur
• Fainting
• The presence of an abnormal, round shape of the nail bed in the fingers and toes is called clubbing.

Usually, the Tetralogy of Fallot is diagnosed after childbirth. The baby's skin may appear blue or cyanosed. A doctor might hear an abnormal sound or heart murmur when listening to the baby's heart with a stethoscope.

Tests to diagnose tetralogy of Fallot include:

• Oxygen level measurement (pulse oximetry). A small apparatus containing a sensor placed either on a finger or toe measures the amount of oxygen in the blood.
• Echocardiogram. An echocardiogram can depict the structure, placement and various functions of the heart wall and its chambers, pulmonary valves as well as aorta.
• Electrocardiogram (ECG or EKG). It records the electrical activity in the heart each time during contraction. It can help determine if the heart chambers are enlarged and if there's an abnormal heartbeat (arrhythmia).
• Chest X-ray. A chest X-ray depicts the structure of the heart as well as lungs. A common sign of Tetralogy of Fallot, as shown by X-ray, is a boot-shaped size of the heart because of the enlargement of the right ventricle.
• Cardiac Catheterization. Doctors may perform this test to evaluate the structure of the heart and plan surgical treatment. In this procedure, the doctor puts a catheter into a blood vessel, preferably in the groyne, and is guided to the heart.

Dye is flown through the catheter in order to make the structures of the heart easier to be seen on X-rays. The doctor is able to measure pressure and oxygen levels in the chambers of the heart along with blood vessels during this procedure.

All babies who exhibit tetralogy of Fallot need corrective surgery performed by a cardiac surgeon. Without treatment, the growth and development of the baby might not be proper. The doctor will make the final call and accordingly decide the most appropriate surgery required as well as the timing of the surgery based on the child's overall health condition.

Some kids may need medicine while waiting for surgery to maintain blood flow from the heart to the lungs.

Surgical options

Surgery for this condition involves open-heart surgery to rectify the defects (intracardiac repair) or a temporary procedure that uses a shunt.

Intracardiac repair

This open-heart surgery is usually performed during the first year itself after birth and requires various repairs. Adults present with this condition rarely undergo the above-mentioned procedure if they don't have the surgical repair done as children.

During intracardiac repair, the surgeon will do the following:

• Patch over the ventricular septal defect in order to close the hole between the ventricles.
• Repair or replace the narrow pulmonary valve so as to increase blood flow to the lungs.

Temporary shunt surgery

• Occasionally babies need to undergo a temporary or palliative surgery before having the intracardiac repair done in order to improve the blood flow to the lungs. This procedure may be done if the baby was born prematurely or has pulmonary arteries that are hypoplastic or under-developed.
• During this procedure, the surgeon creates a bypass or shunt between a large artery that eventually branches off from the aorta as well as the pulmonary artery.

While most babies and adults do extremely well after open-heart surgery to repair the defects through intracardiac repair, still, in some cases, long-term complications are common. These may comprise:

• Chronic pulmonary regurgitation, where blood leaks through the valve back into the right ventricle
• Leaking tricuspid valve
• Holes in the wall between the ventricles that may continue to ooze out even after repair or may require re-repair
• Enlarged right ventricle or left ventricle which isn't functioning properly
• Arrhythmias
• Coronary artery disease
• Enlargement of the ascending aorta (aortic root dilation)
• Sudden cardiac death

What critical risks does Tetralogy of Fallot pose to a child's development and well-being?

Tetralogy of Fallot poses critical risks to a child's development and well-being, including cyanosis, developmental delays, heart failure, arrhythmias, infective endocarditis, pulmonary valve regurgitation, and emotional impact. Early diagnosis, surgical intervention, and ongoing medical management are crucial in mitigating these risks and optimising long-term outcomes.

How common is tetralogy of Fallot?

Tetralogy of Fallot is one of the most common congenital heart defects, accounting for about 5-7% of all congenital heart defects.

Can an adult have tetralogy of Fallot?

Yes, tetralogy of Fallot can occur in adults, either if it was not diagnosed and treated in childhood or if complications arise later in life.

What is the life expectancy of someone with tetralogy of Fallot?

With proper medical management and surgical intervention, individuals with tetralogy of Fallot can have a near-normal life expectancy.

How successful is the surgery for living with tetralogy of Fallot?

Surgical repair of tetralogy of Fallot is highly successful in improving blood flow and alleviating symptoms. Many individuals who undergo surgery go on to lead healthy lives.

What type of ongoing care is necessary for those who have had surgical repair of tetralogy of Fallot?

Ongoing medical monitoring is necessary to assess heart function and address any potential complications. Regular follow-up appointments with a cardiologist are essential for maintaining heart health.

Is pregnancy safe for people who have had tetralogy of Fallot repaired?

Pregnancy can be safe for individuals who have had tetralogy of Fallot repaired, but careful monitoring by a healthcare team experienced in managing congenital heart conditions is essential to ensure a safe pregnancy and delivery.

Are there any lifestyle restrictions for individuals with Tetralogy of Fallot?

In general, individuals with tetralogy of Fallot can lead active lives. However, they may need to avoid extreme physical exertion and high-altitude activities. It's essential to consult with a healthcare provider for personalised lifestyle recommendations.

What is the role of medications in managing Tetralogy of Fallot?

Medications may be prescribed to manage symptoms, prevent complications, and optimise heart function. Common medications may include diuretics to reduce fluid buildup, beta-blockers to regulate heart rate, and antibiotics before dental or surgical procedures to prevent infection

What are ‘tet spells’?

Sometimes, babies with Tetralogy of Fallot suddenly develop deep blue skin, nails, and lips after crying or feeding or when irritated. These episodes are termed tet spells and are caused by a rapid drop in the amount of oxygen in the blood. These are most commonly seen in young infants who are 2 to 4 months old. Toddlers or older children might spontaneously squat when they're short of breath as it increases blood flow to the lungs.

Can congenital heart defects be prevented?

While the exact cause of most congenital heart defects like Tetralogy of Fallot is unknown, there are steps expectant parents can take to help reduce the overall risk of birth defects:

• Get proper prenatal care: Regular checkups with a healthcare team during pregnancy are essential for both mom and baby's health.
• Take a multivitamin with folic acid: Taking 400 micrograms of folic acid daily may help lower the risk of heart defects.
• Avoid drinking and smoking: These habits can harm a baby's health, as well as exposure to secondhand smoke.
• Get a Rubella (German measles) vaccine: Vaccination before conceiving can prevent rubella infection, which may affect a baby's heart development.
• Control blood sugar: Good control of blood sugar levels in individuals with diabetes can reduce the risk of congenital heart defects.
• Manage chronic health conditions: Discuss with your healthcare team the best way to treat and manage other health conditions during pregnancy.
• Avoid harmful substances: Delegate tasks involving exposure to strong-smelling products or chemicals during pregnancy.
• Consult with your doctor before taking medications: Inform your healthcare provider about all medications you take, including over-the-counter drugs.

What is the outlook for Tetralogy of Fallot?

For Tetralogy of Fallot, early surgery is key. With treatment, most people lead active, healthy lives, boasting high survival rates. The repaired heart can function normally, allowing for a full life. However, untreated, limited oxygen flow brings serious complications and a much shorter lifespan. While some limitations might persist, the outlook with surgery is incredibly positive, enabling individuals to thrive.

How does TOF affect a child's daily life?

• School activities: Children with TOF might tire more easily, requiring breaks during physical activities. Depending on severity, some sports or activities may be restricted. Open communication with teachers and classmates can help create a supportive environment.
• Sports participation: Active lifestyles are encouraged, but high-intensity sports or those with risk of injury might require caution. Consulting with doctors and exploring alternative activities is important.
• Emotional well-being: Visible scars, limitations, and potential cyanosis can affect self-esteem. Open communication with parents, therapists, and support groups can help build confidence and address anxiety.

What long-term lifestyle adjustments are necessary after TOF surgery?

• Dietary changes: Often, no specific dietary restrictions are required. However, maintaining a healthy weight and good nutrition is crucial for overall health.
• Medication: Some individuals might need long-term medication to manage arrhythmias, prevent infection, or support heart function. Adherence to medication schedules is essential.
• Activity restrictions: Depending on the severity and post-surgical recovery, some activity limitations might be advised initially. Gradually increasing activity levels under doctor guidance is crucial.

How can parents and families support a child with TOF?

• Managing anxiety: Talk openly about the condition, answer questions honestly, and provide emotional support. Encourage open communication about anxieties and fears.
• Building self-esteem: Celebrate achievements, highlight strengths, and foster positive self-perception. Encourage participation in activities that build confidence and self-worth.
• Advocating for needs: Work with schools, doctors, and other caregivers to ensure the child's needs are met. Advocate for necessary accommodations and support systems.

What are the potential complications that might arise later in life?

• Arrhythmias: Irregular heartbeats can occur, requiring medication or further intervention. Regular monitoring and seeking medical advice when necessary are crucial.
• Valve dysfunction: Leaky or narrowed valves might require additional procedures later in life. Regular checkups and early detection are key.
• Pregnancy risks: Women with TOF can have healthy pregnancies with proper medical care and monitoring. Discussing risks and precautions with doctors beforehand is essential.

Can someone with TOF live a normal life expectancy?

Yes, with early diagnosis and treatment, most individuals with TOF live full and healthy lives. Prognosis depends on individual factors like severity, presence of other health conditions, and adherence to follow-up care. 

What career paths might be challenging or unsuitable?

Physically demanding jobs or high-altitude environments might pose challenges due to potential limitations in exercise capacity. Consulting with career counsellors and doctors can help explore suitable options.

Reviewed by Dr. Dinesh Chandra, Principal Consultant, Cardiac Surgery (CTVS) on 9-May-2024.