Tetralogy of Fallot (TOF)

Heart With Tetralogy of Fallot

An animation of a heart with tetralogy of Fallot (TOF)

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Anatomy

The four components that make up the "tetralogy" include:
  1. a ventricular septal defect (VSD);
  2. pulmonary stenosis (subvalvar, valvar and/or supravalvar);
  3. an overriding aorta; and
  4. right ventricular hypertrophy.

The primary problem is the malalignment VSD, in which the infundibular or conal septum is malaligned anteriorly, thereby blocking the right ventricular outflow tract. The conal septum pulls the aorta anteriorly with it, into a position overriding the ventricular septum. The right ventricular hypertrophy occurs secondary to high pressure in the right ventricle (RV), created by the pulmonary stenosis and the large VSD. In the extreme situation, the right ventricular outflow tract is completely blocked off, in which case you have tetralogy of Fallot with pulmonary atresia.

Physiology

The physiology is variable despite similar anatomy. The degree of RV outflow tract obstruction strongly influences the degree of cyanosis. With increasing degrees of obstruction, more and more of the desaturated (blue) blood is forced across the VSD and out into the aorta (a right to left shunt), thus never reaching the lungs to become oxygenated. On the other hand, if there is only mild RV outflow tract obstruction, there may be less resistance to blood flowing out the pulmonary artery than flowing to the systemic circulation. In this situation, excess blood tends to flow from the left ventricle to the right ventricle; i.e. a net left to right shunt. These patients are acyanotic ("pink Tetralogy of Fallot") and may actually develop congestive heart failure.

A patent ductus arteriosus (PDA) can play a very important role by providing an alternate pathway for blood to reach the lungs, allowing adequate pulmonary blood flow even in the face of very severe RV outflow obstruction. The flow across the PDA goes from left (the aorta) to right (the pulmonary artery) in this setting.

Children with tetralogy of Fallot are at risk of having hypercyanotic spells or "Tet spells". Spasm of the infundibular region (below the pulmonary valve) and/or a sudden increase in pulmonary vascular resistance produces a sudden decrease in the amount of blood getting to the lungs. Concomitantly, more blood is shunted from right to left and exits the aorta as desaturated blood. The resultant hypoxemia further increases the pulmonary vascular resistance and a downward spiral begins with the rapid development of acidosis. Older children learn to squat in order to prevent or alleviate a spell. It is believed that the squatting kinks the large arteries in the lower extremities, thus increasing the systemic vascular resistance and forcing more blood across the pulmonary outflow tract.

Surgical Management of Tetralogy of Fallot (TOF)

Definitive treatment of tetralogy of Fallot consists of surgical correction. Timing of surgery remains controversial but most agree that the presence of severe cyanosis or hypercyanotic spells necessitates surgical intervention. Complete repair consists of closing the ventricular septal defect with a patch and enlarging the right ventricular outflow tract. The latter usually requires incision across the pulmonary valve annulus and placement of a patch of synthetic material to widen the outflow tract at all levels of obstruction.

When surgical intervention is necessary in a patient who is not a good candidate for complete repair (i.e., very small patient size, tiny pulmonary arteries or an anomalous coronary artery course), a palliative procedure is performed. Palliation consists of placement of a shunt from the aorta to the pulmonary artery to increase pulmonary blood flow. The most commonly performed shunt today is the modified Blalock-Taussig shunt, in which a tube of Gore-Tex is placed between the subclavian artery and the pulmonary artery.


What Is Normal Cardiac Anatomy?

When your child has a congenital heart defect, there's usually something wrong with the structure of his or her heart's structure.

 
Learn More About Normal Cardiac Anatomy

Heart With Normal Cardiac Anatomy

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When your child has a congenital heart defect, there's usually something wrong with the structure of his or her heart's structure.

The heart is composed of four chambers. The two upper chambers, known as atria, collect blood as it flows back to the heart. The two lower chambers, known as ventricles, pump blood with each heartbeat to the two main arteries (the pulmonary artery and the aorta). The septum is the wall that divides the heart into right and left sides. The atrial septum separates the right and left atria; likewise, the ventricular septum separates the two ventricles.

There are four valves that control the flow of blood through the heart. These flap-like structures allow blood to flow in only one direction. The tricuspid and mitral valves, also known as the atrioventricular valves, separate the upper and lower chambers of the heart. The aortic and pulmonary valves, also known as the arterial valves, separate the ventricles from the main arteries. Oxygen-depleted blood returns from the body and drains into the right atrium via the superior and inferior vena cavas. The blood in the right atrium then passes through the tricuspid valve and enters the right ventricle.

Next, the blood passes through the pulmonary valve, enters the pulmonary artery, and travels to the lungs where it is replenished with oxygen. The oxygen-rich blood returns to the heart via the pulmonary veins, draining into the left atrium. The blood in the left atrium passes through the bicuspid, or mitral, valve and enters the left ventricle.

Finally, the oxygen-rich blood flows through the aortic valve into the aorta and out to the rest of the body.

Congenital Heart Defects

What Is a Congenital Heart Defect?

A congenital heart defect is a problem in the heart's structure that is there when a baby is born. Heart defects can range from mild to severe.

What Causes a Congenital Heart Defect?

Congenital heart defects happen because of incomplete or abnormal development of the fetus' heart during the very early weeks of pregnancy. Some are known to be associated with genetic disorders, such as Down syndrome.

But the cause of most congenital heart defects isn't known. While they can't be prevented, many treatments are available for the defects and related health problems.

Common Heart Defects

Common types of congenital heart defects, which can affect any part of the heart or its surrounding structures, include:

What Are the Signs & Symptoms of a Heart Defect?

Because congenital defects often affect the heart's ability to pump blood and to deliver oxygen to the tissues of the body, they often produce telltale signs such as:

  • a bluish tinge or color (cyanosis) to the lips, tongue, and/or nailbeds
  • an increased rate of breathing or difficulty breathing
  • poor appetite or difficulty feeding
  • failure to thrive (weight loss or failure to gain weight)
  • abnormal heart murmur
  • sweating, especially during feedings
  • a weaker pulse

If you notice any of these signs in your baby or child, call your doctor right away. If your doctor notices these signs, you may be referred to a pediatric cardiologist (a doctor who specializes in treating heart problems).

How Is a Heart Defect Diagnosed?

Some congenital heart defects cause serious symptoms right at birth. For those, a baby will go to the newborn intensive care unit (NICU) in the hospital for immediate evaluation by a cardiologist. Other defects might not be diagnosed until the teen years — or even adulthood.

Newborn Screening

Newborns in the U.S. are screened at least 24 hours after birth to look for serious congenital heart problems that can lower oxygen levels. This screen is a simple, painless test using a machine called a pulse oximeter. The oximeter uses a sensor put on a baby's skin that estimates how much oxygen is in the baby's blood. This test can help spot heart problems early on so that they can be treated right away. The screening will find most serious heart defects, but some babies who test normal could still have a problem, especially COA or other defects on the left side of the heart.

Testing

After a complete physical exam, including evaluation of the baby's heart rate and blood pressure, the cardiologist will order an electrocardiogram (EKG).

The cardiologist will probably order an echocardiogram — a test that uses sound waves to create a picture of the heart and its circulation. Echocardiograms are the primary tool for diagnosing congenital heart defects.

A fetal echocardiogram is a specialized type of ultrasound that allows diagnosis of heart problems in utero. This can be done as early as 16–18 weeks into the pregnancy. These tests are ordered when a possible heart abnormality is seen on a level II ultrasound. They're also done if another close family member has a congenital heart defect or if the mother has a condition, such as diabetes, that might make a heart problem in the fetus more likely.

Sometimes, doctors order a chest X-ray or a cardiac catheterization.

When Should I Call the Doctor?

If you think your child may have a heart problem or you notice any signs (such as difficulty breathing or feeding, or blue lips or tongue) that concern you, call your doctor. If your baby suddenly turns very blue or loses consciousness, call 911.

More treatments than ever are available for congenital heart defects, and most defects are treated successfully. Children with heart problems are best cared for by a team of specialists, which usually will include:

  • pediatric cardiologists
  • pediatric heart surgeons
  • pediatric cardiac anesthesiologists
  • doctors specialized in the intensive care of children with heart problems and specialized nurses, nurse practitioners, physician assistants, and many others

Many kids with heart problems benefit from having their hearts fixed surgically or through a cardiac catheterization procedure. The sooner they get medical attention, the better the chances for the fullest recovery possible.

With all the medical resources available, a congenital heart defect won't necessarily prevent a child from leading a normal life. By working with the health care team, you'll get the best care possible for your child.

Reviewed by: Steven Dowshen, MD
Date reviewed: October 30, 2017