Updated on March 14, 2022.
Tetralogy of Fallot is a rare congenital heart defect that occurs in about 5 out of every 10,000 babies. It involves a combination of four different heart abnormalities, all of which affect the heart’s structure.
These defects include a hole between the bottom chambers of the heart, a thickening of the right lower heart chamber, a shift of the aorta (the body’s main artery) from its usual position, and a narrowing of the valve that separates the lower right chamber of the heart from the main artery leading to the lungs.
Visibility has increased in recent years
You may have heard of the condition if you’re a fan of late-night television host Jimmy Kimmel. During the opening monologue of his May 1, 2017 show, Kimmel tearfully revealed that his newborn son was born with the condition.
As Kimmel explained, on April 21, 2017, his wife, Molly McNearney, gave birth to their second child—a son named William (Billy, for short). Only hours after the delivery, a nurse heard a murmur in the baby’s heart, which can be normal in newborns. The nurse, however, also noticed the baby was a purplish color, which is not normal.
Doctors and nurses attended to the newborn and determined that he was not getting enough oxygen into his blood. After an X-ray and echocardiogram, a sonogram of the heart, doctors were able to make a diagnosis.
“They found that Billy was born with a heart disease,” Kimmel explained to his audience. “Something called tetralogy of Fallot with pulmonary atresia.”
“It's hard to explain,” Kimmel said as his voice cracked. “Basically, the pulmonary valve was completely blocked. And he has a hole in the wall between the left and right sides of his heart.”
Billy was transported to Children’s Hospital Los Angeles to have open-heart surgery on one of the two defects in his heart. Six days after the infant’s surgery, he was able to go home.
What is tetralogy of Fallot with pulmonary atresia?
The condition that Billy has is called tetralogy of Fallot with pulmonary atresia. This type of tetralogy of Fallot occurs when one of the heart valves that come out of the baby’s heart doesn’t properly form.
With this condition, blood is unable travel from the heart to the lungs to pick up oxygen in the typical way. Instead, blood flows to the lungs via other routes in the heart and arteries. These routes within the heart and arteries are critical to the baby’s growth in the womb and they usually close up after birth.
As in Billy’s case, all children diagnosed with tetralogy of Fallot will need surgery to correct the problem. They type of surgery requires depends on the details of the condition.
Treating tetralogy of Fallot
Open-heart surgery, also known as intracardiac repair, is performed to correct the issue. During intracardiac repair, the surgeon works to close the hole between the lower chambers of the heart and repair or replace the defective valve that runs between the heart and the lungs.
In some cases, a baby will need a temporary procedure before open-heart surgery can be performed. This procedure, called temporary shunt surgery, typically involves creating a bypass, or shunt, between a large artery that branches off from the aorta and the pulmonary artery that sends blood to the lungs.
While outcomes for people with tetralogy of Fallot are generally good, patients will need follow-up care throughout their lives to keep track of any potential complications from surgery and other treatment.
