Before this week, many people had never heard the term, “tetralogy of fallot.”

When Jimmy Kimmel, late night talk show host, shared the emotional story of his son’s diagnosis, it turned the spotlight on congenital heart defects. It can be a terrifying diagnosis for any family. At the Center for Maternal/Fetal Health at Rocky Mountain Hospital for Children, our team cares for hundreds of families every year dealing with congenital heart defects. Two of our team members, board certified pediatric cardiothoracic surgeon, Dr. Steve Leonard and board certified pediatric cardiologist, Dr. Samuel Brescia helped answer frequently asked questions about congenital heart defects.

Dr. Steve Leonard Q&A:

Q: How often do you see tetralogy of fallot in newborn babies? 

A: Tetralogy of Fallot (TOF) is the most common heart defect causing cyanosis (decreased oxygen content in the blood resulting in a blue color in the fingers and toes).  In most medical series TOF comprises about 10% of children with congenital heart defects. According to the Centers for Disease Control and Prevention TOF occurs in approximately 1 in 2,500 babies born in the United States each year. This means there are about 1,660 babies born each year in the United States with tetralogy of Fallot. Tetralogy of Fallot with pulmonary atresia is the most severe form of the defect, and occurs in 10-20% of TOF patients in most medical series.

Q: What is the treatment? Can you describe the surgery? 

A: The treatment varies depending upon the specific details of the patient’s anatomy, the baby’s weight, the presence of other cardiac or non-cardiac defects, and the experience and preferences of the treating cardiac center. Many patients can undergo complete repair within infancy.

However, with pulmonary atresia, it may be necessary to do a shunt or opening of the outflow tract from the right ventricle to the pulmonary artery to improve blood flow to the lungs. These patients would then undergo complete repair later. A shunt involves placing a small tube graft from the aorta (or one of its branches) to the pulmonary artery so that some of the blood that would ordinarily flow to the body is directed to the lungs to improve the oxygen content in the body. This is not a complete repair; it is a temporizing procedure until complete repair can be done at a later time. Another temporizing procedure may involve opening the pathway from the right ventricle to the pulmonary artery with a patch to increase blood flow to the lungs.

The final repair includes closing the ventricular septal defect (a hole between the right and left ventricles) and establishing an unobstructed pathway for blood to flow from the right ventricle to the lungs via the pulmonary artery. In patients with TOF and pulmonary atresia, the may have collateral arteries arising from the aorta and connecting to the lungs. The repair would include connecting those collateral arteries to the pulmonary arteries (unifocalization).

Q: What is the recovery like for the baby after surgery? 

A: Recovery is quite variable depending upon the specific operation performed, the age and weight of the baby, and the patient’s anatomic details. Recovery after a shunt may be as short as a few days in the hospital. Recovery from a typical TOF repair may be a week in the hospital, or shorter in some cases. Recovery could be prolonged if there are other complicating conditions.

Q: Will the child need follow-up surgeries? 

A: Again, this depends upon the specific details of the repair. Every attempt is made to preserve the pulmonary valve during the repair, but this cannot always be accomplished. If the patient does not have a functional pulmonary valve, it may be necessary to implant a pulmonary valve several years later. Patients with TOF and pulmonary atresia will undoubtedly require more operations to maintain a functional pulmonary valve throughout their lifetime.

Q: Will the child have any challenges or obstacles as they grow up? 

A: Most patients will enjoy a relatively normal life, even if they require additional surgery. Their quality of life, to a large part, depends upon having a functional pulmonary valve (no significant obstruction or leaking).

Click here to watch a Facebook live interview (taped May 3, 2017), with Dr. Steve Leonard - Tetralogy of Fallot with Pulmonary Atresia

Dr. Samuel Brescia Q&A:

Q: How common is tetralogy of fallot with pulmonary atresia?

A: The newborn with TOF pulmonary atresia is diagnosed when cyanosis is recognized or a murmur is appreciated. These babies are dependent on their fetal circulation for blood flow to their lungs. The normal transition to life outside the womb can result in a dangerous drop of blood flow to the lungs. When this occurs, they can become very ill. We are able to avoid this danger when diagnosed prenatally.

Q: Is it usually diagnosed prenatally or caught shortly after birth?

A: Recently, we have seen a shift from post-natal to antenatal diagnosis. Knowing the diagnosis allows the care team to prepare for the infant and provide lifesaving therapy at the earliest stages of life. It also allows parents to develop a birth plan that optimizes the care of both mother and infant.

Q: Can you talk about the unique situation at Presbyterian/St. Luke’s Medical Center and Rocky Mountain Hospital for Children where mom and baby are under one roof? How important is this for our families?

A: When that family walks into the hospital, we have many patients. We have a mother who needs the best available obstetric care. There is a fragile newborn who needs world class neonatal and cardiac care. We have families who are facing a very difficult challenge who need loving and compassionate support from their medical family. What a great opportunity and blessing to be a part of a team committed to that mission.

Other resources:

See the KMGH Ch. 7 news story on a tetralogy of fallot patient at RMHC

Click here to enter a comment. Comments will be considered after being reviewed. Thank you!