Tetralogy of Fallot (TOF)

Heart with Tetralogy of Fallot

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

Note: To view heart animations, you need the latest version of the
Adobe Flash Player.


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

Note: To view heart animations, you need the latest version of the
Adobe Flash Player.


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.

Patent Ductus Arteriosus (PDA)

The lungs are not used while a fetus is in the amniotic fluid because the baby gets oxygen directly from the mother's placenta. When a newborn breathes and begins to use the lungs, the DA is no longer needed and usually closes during the first 2 days after birth.

But when the DA fails to close, a condition called patent (meaning "open") ductus arteriosus (PDA) results, in which oxygen-rich blood from the aorta is allowed to mix with oxygen-poor blood in the pulmonary artery. As a result, too much blood flows into the lungs, which puts a strain on the heart and increases blood pressure in the pulmonary arteries.

Causes

The cause of PDA is not known, but genetics might play a role. PDA is more common in premature babies and affects twice as many girls as boys. It's also common among babies with neonatal respiratory distress syndrome, babies with genetic disorders (such as Down syndrome), and babies whose mothers had German measles (rubella) during pregnancy.

In the vast majority of babies with a PDA but an otherwise normal heart, the PDA will shrink and go away on its own in the first few days of life. Some PDAs that don't close then will close on their own by the time the child is a year old.

In premature infants, the PDA is more likely to stay open, particularly if the baby has lung disease. When this happens, treatment to close the PDA might be considered.

In infants born with additional heart defects that decrease blood flow from the heart to the lungs or decrease the flow of oxygen-rich blood to the body, the PDA could actually be beneficial and the doctor might prescribe medicine to keep the ductus arteriosus open.

Symptoms and Tests

Babies with a large PDA might experience symptoms such as:

  • a bounding (strong and forceful) pulse
  • fast breathing
  • poor feeding habits
  • shortness of breath
  • sweating while feeding
  • tiring very easily
  • poor growth

If a PDA is suspected, the doctor will use a stethoscope to listen for a heart murmur, which is often heard in babies with PDAs. Follow-up tests might include:

  • a chest X-ray
  • an EKG, a test that measures the heart's electrical activity and can show if the heart is enlarged
  • an echocardiogram, a test that uses sound waves to diagnose heart problems. These waves bounce off parts of the heart, creating a picture of the heart that is shown on a monitor. In babies with PDA, an echo shows how big the opening is and how well the heart is handling it.

Treatment

The three treatment options for PDA are medication, catheter-based procedures, and surgery. A doctor will close a PDA if the size of the opening is large enough that the lungs could become overloaded with blood, a condition that can lead to an enlarged heart.

A PDA also might be closed to reduce the risk of developing a heart infection known as endocarditis, which affects the tissue lining the heart and blood vessels. Endocarditis is serious and requires treatment with intravenous (IV) antibiotics.

Reviewed by: Gina Baffa, MD
Date reviewed: February 2012