Tetralogy of Fallot (TOF) is a rare but serious heart condition that affects babies from birth. It’s called a “congenital heart defect,” which means the heart doesn’t form properly during pregnancy. TOF is more complicated than many other heart defects because it involves four different heart problems that change how blood flows through the heart and body. This makes it harder for oxygen-rich blood to reach the tissues and organs, leading to bluish skin (cyanosis), difficulty breathing, and poor growth.

Even though TOF sounds scary, it’s essential to know it can be treated. Thanks to advances in heart surgery, most children with TOF can go on to lead healthy lives after receiving proper care. This blog will explain what Tetralogy of Fallot is, why it happens, and what symptoms to look out for. We’ll also explore how doctors diagnose and treat the condition, offering hope to families facing this challenge. 

Tetralogy Of Fallot Symptoms

Tetralogy Of Fallot Causes

1. Bluish Skin (Cyanosis)

  – What it is: Babies with TOF often have a bluish tint on their nails, skin, or lips. This happens because there isn’t enough oxygen in their blood.

   – Why it happens: One of the four heart defects causes oxygen-poor blood to mix with oxygen-rich blood, so insufficient oxygen gets to the body.

2. Shortness of Breath or Rapid Breathing

   – What it is: A child with TOF may breathe faster than usual, especially when feeding, crying, or exercising.

   – Why it happens: The heart has to work harder to pump blood but still doesn’t get enough oxygen, making breathing more difficult.

3. Fainting (Syncope)

   – What it is: Sometimes, children with TOF might faint or feel dizzy.

   – Why it happens: When the body isn’t getting enough oxygen, it can cause fainting spells.

4. Tiring Easily

   – What it is: Babies with TOF might get tired quickly, especially when feeding or playing.

   – Why it happens: Since the heart isn’t working efficiently, it takes more effort to do simple tasks, leading to fatigue.

5. Heart Murmur

   – What it is: A doctor might hear an unusual sound (heart murmur) when listening to the baby’s heart with a stethoscope.

   – Why it happens: The abnormal blood flow caused by the heart defects creates this sound.

6. Poor Weight Gain

   – What it is: Babies with TOF might not gain weight as they should.

   – Why it happens: Feeding takes a lot of effort due to shortness of breath and tiredness, so they might not eat enough to grow properly.

7. “Tet Spells”

   – What it is: Some children may have episodes where they suddenly become very blue, have difficulty breathing, or become highly irritable.

   – Why it happens: These spells occur when oxygen levels in the blood drop even further, often during crying or feeding.

Tetralogy Of Fallot Causes

Tetralogy of Fallot (TOF) occurs when the heart doesn’t develop properly while the baby is still growing in the mother’s womb. Doctors aren’t always sure why this happens, but some known factors can increase the chances of a baby being born with TOF.

1. Problems with the Baby’s Development

   – A baby’s heart is forming during the first eight weeks of pregnancy. If something goes wrong during this time, it can lead to a heart defect like TOF. In TOF, the heart has four specific problems affecting blood flow. These problems don’t develop because of anything the parents did or didn’t do; they just happen by chance in most cases.

2. Genetic Conditions

   – Some babies with Tetralogy of Fallot have genetic conditions that affect their development. One example is Down syndrome, which is a genetic disorder. Another example is 22q11.2 deletion syndrome (also called DiGeorge syndrome). These genetic conditions can increase the chances of being born with TOF or other heart defects.

3. Family History

   – If someone in the family has had a heart defect, including TOF, it might increase the chances of another baby being born with a similar condition. While this isn’t very common, it can sometimes be a factor.

4. Mother’s Health During Pregnancy

Certain health conditions in the mother during pregnancy can raise the possibility of having a baby with Tetralogy of Fallot. For example:

    – Viral infections: If the mother has an infection like rubella (German measles) during pregnancy, it can affect the baby’s heart development.

     – Poor nutrition: Not getting enough proper nutrition during pregnancy can also be a risk factor.

    – Diabetes: Mothers who have poorly controlled diabetes during pregnancy have higher chances of having a baby with a heart defect like TOF.

     – Alcohol or drug use: If the mother uses certain drugs, drinks alcohol, or is exposed to harmful chemicals while pregnant, it may affect the baby’s heart.

5. Unknown Reasons

   – Doctors often can’t find an exact cause for TOF. It just happens randomly, without any clear reason. However, it’s important to know that nothing the parents did during pregnancy directly causes this condition in most cases.

What Is Tetralogy Of Fallot?

Tetralogy of Fallot (TOF) is a heart problem babies are born with. It’s a type of congenital heart defect, which means the heart doesn’t develop normally during pregnancy. The word “tetralogy” means four, and TOF is called that because it involves four different issues with the heart.

These four problems make it challenging for the heart to pump enough oxygen-rich blood to the remaining body parts. As a result, babies with TOF often have a bluish colour to their skin (called cyanosis) because their blood doesn’t carry enough oxygen.

The Four Main Heart Problems in TOF:

1. Ventricular Septal Defect (VSD): A hole between the heart’s two lower chambers (ventricles).

2. Pulmonary Stenosis is a narrowing of the pulmonary valve that makes it harder for blood to flow from the heart to the lungs.

3. Overriding Aorta: The aorta, a large artery that carries blood to the body, is in the wrong position. It’s over the hole in the heart, allowing oxygen-poor blood to mix with oxygen-rich blood.

4. Right Ventricular Hypertrophy: The muscle on the right side of the heart becomes thicker because it has to work harder than normal to pump blood through the narrowed pulmonary valve.

Tetralogy Of Fallot Treatment

Treatment for TOF is usually surgical and aims to repair the defects to improve blood flow and oxygen levels. The primary treatment option is open-heart surgery, which may involve:

– Patching the ventricular septal defect to close the hole in the heart.

– Repairing or replacing the pulmonary valve to alleviate obstruction.

– Widening the right ventricular outflow tract to allow better blood flow.

The cost of TOF surgery in India varies depending on several factors, including the choice of hospital, city, surgeon’s experience, and the specific needs of the patient. On average, it can range from approximately INR 415,750 to INR 623,625, which is significantly lower than the costs in many Western countries.

Tetralogy Of Fallot Diagnosis

1. Physical Exam

   – What Happens: After a baby is born, the doctor will listen to the baby’s heart using a stethoscope. In babies with TOF, the doctor might hear an unusual sound called a heart murmur. This is a sign that there could be a heart problem.

   – Why It’s Important: Heart murmurs are caused by abnormal blood flow, which happens in TOF. This can help doctors suspect there might be a heart defect.

2. Pulse Oximetry Test

  – What Happens: A small sensor is placed on the baby’s skin (usually on a finger or toe) to estimate the amount of oxygen in the blood.

   – Why It’s Important: Babies with TOF often have lower oxygen levels because their heart doesn’t pump enough oxygen-rich blood to the body. This simple test can detect if oxygen levels are too low.

3. Echocardiogram (Echo)

   – What Happens: This test uses sound waves (like an ultrasound) to create pictures of the baby’s heart. It helps doctors see how the heart is working and whether there are any problems with its structure.

   Why It’s Important: An echocardiogram can show the four primary heart defects that make up the Tetralogy of Fallot, such as the hole in the heart (VSD) or the narrowed valve (pulmonary stenosis). This test is one of the main tools for diagnosing TOF.

4. Chest X-ray

   – What Happens: A chest X-ray shows the baby’s heart and lungs.

   – Why It’s Important: The X-ray can show if the heart is shaped abnormally or if there’s a problem with the size or position of the heart and blood vessels. In TOF, the heart may appear larger or have a unique shape, sometimes described as a “boot-shaped heart.”

5. Electrocardiogram (ECG or EKG)

   – What Happens: Small sensors are placed on the baby’s skin to measure the heart’s electrical activity.

   – Why It’s Important: An ECG shows how the heart beats. It helps doctors see if the heart’s electrical system is working properly. In babies with TOF, the test can show if the right side of the heart is working harder than normal.

6. Fetal Echocardiogram (Before Birth)

   – What Happens: If doctors suspect a heart problem while the baby is still in the womb, they may do a fetal echocardiogram. This is an ultrasound of the baby’s heart during pregnancy.

   Why It’s Important: This test can help doctors determine whether the baby’s heart is developing normally. If TOF is found before birth, doctors can plan for any special care the baby might need after delivery.

7. Cardiac Catheterization (In Some Cases)

 – What Happens: A thin tube (catheter) is inserted into a blood vessel & guided to the heart. This allows doctors to take detailed pictures and measure the pressure and oxygen levels inside the heart.

   – Why It’s Important: This test is usually done if doctors need more information before planning surgery. It helps them understand the exact nature of the heart defects.

Double Outlet Right Ventricle Vs Tetralogy Of Fallot

Double Outlet Right Ventricle (DORV) & Tetralogy of Fallot (TOF) are congenital heart defects, meaning they are problems with how the heart forms before a baby is born. While these two conditions are similar, they also have significant differences. Let’s look at each one in simple language.

Double Outlet Right Ventricle (DORV)

In a healthy heart, the aorta, which carries blood to the body, & the pulmonary artery, which brings blood to the lungs, are connected to different heart parts. In DORV, both the aorta and the pulmonary artery come out of the heart’s right ventricle (the lower right chamber), which is abnormal. 

Key Features of DORV:

1. Both Great Arteries on the Right Side: Normally, the aorta is linked to the left ventricle & the pulmonary artery is linked to the right ventricle. In DORV, both the aorta and pulmonary artery come from the right ventricle.

2. Ventricular Septal Defect (VSD): Babies with DORV usually have a hole in the wall (septum) between the two ventricles, called a Ventricular Septal Defect (VSD). This lets oxygen-poor blood mix with oxygen-rich blood.

3. Oxygen Levels: Because the blood doesn’t flow normally through the heart and lungs, babies with DORV may have low oxygen levels, causing cyanosis (bluish skin colour).

4. Variations: There are different types of DORV, depending on the position of the arteries and how severe the defect is.

Tetralogy of Fallot (TOF)

Tetralogy of Fallot is a condition that involves four heart defects. These problems affect how blood flows through the heart and reduce the amount of oxygen-rich blood going to the body.

Key Features of TOF:

1. Ventricular Septal Defect (VSD): Like DORV, TOF includes a VSD, a hole between the two lower chambers of the heart.

2. Pulmonary Stenosis: TOF has pulmonary stenosis, which means the valve that manages blood flow from the heart to the lungs is too narrow, making it difficult for blood to reach the lungs.

3. Overriding Aorta: In TOF, the aorta is in the wrong position. Instead of only receiving blood from the left ventricle, it sits over the VSD, allowing it to get blood from both ventricles.

4. Right Ventricular Hypertrophy: Because the right side of the heart has to work harder to pump blood, the muscle on the right side (the right ventricle) gets thicker.

5. Cyanosis: Like DORV, TOF can cause cyanosis because of low oxygen levels in the blood.

Main Differences Between DORV and TOF

1. Location of the Great Arteries: In DORV, both the aorta and pulmonary artery come from the right ventricle. In TOF, the aorta is “overriding” (partly connected to both ventricles), and only the pulmonary artery comes from the right ventricle.

2. Number of Heart Problems: TOF is defined by four defects, while DORV mainly involves the location of the arteries and the VSD, although it can have other variations.

3. Surgery and Treatment: While both conditions require surgery to correct the defects and improve blood flow, the exact procedures differ depending on the heart’s structure and the severity of the defects.

In Summary:

– DORV means both the aorta and pulmonary artery come from the right ventricle, which causes abnormal blood flow.

– TOF includes four heart defects that also affect how blood flows through the heart, leading to low oxygen levels.

Though both conditions can cause cyanosis and require surgery, their differences lie in the structure of the heart and how blood circulates.

Conclusion

TOF is a complex genetic heart condition that needs timely medical intervention, often through surgery, to improve a child’s health & quality of life. With advances in medical care, many children with TOF can go on to lead healthy, active lives. However, the cost of treatment can be overwhelming for families, especially in India, where access to specialised care may be limited.

A fundraising website can be a powerful tool for families seeking financial support for TOF treatment. By creating a campaign on a fundraising platform, families can reach out to friends, community members, and kind-hearted strangers willing to contribute towards the costs of surgery, hospital stays, and follow-up care. These platforms offer an easy way for people to donate and make a big difference in helping children with TOF get the life-saving treatment they need.