Comedian Jimmy Kimmel took a more serious-than-usual tone in a recent episode of his show, opening up about his family’s journey with congenital heart disease. In an emotional monologue, Kimmel revealed his newborn son turned purple and had to undergo emergency surgery just hours after birth for a condition called tetralogy of fallot (TOF) with pulmonary atresia.
According to the Centers for Disease Control and Prevention (CDC), congenital heart defects are the most common type of birth defect, affecting nearly one in 100 children.
“Anytime you have a heart diagnosis, you do grieve because you learn that your perfect little gem has some imperfection,” said Camille Hancock Friesen, MD, medical director of pediatric cardiovascular surgery at Dell Children’s Medical Center of Central Texas and a world-renowned expert on congenital heart disease. Dell Children’s is part of Ascension, the nation’s largest nonprofit health system and the world’s largest Catholic health system.
What is Tetralogy of Fallot (TOF)
“Tetralogy of fallot is a really big word for one problem that results in a tetralogy, or four defects,” Hancock Friesen said. “It happens when the muscle under the pulmonary valve doesn’t grow properly.”
The four defects include:
- A narrowed passage for blood to flow to the lungs.
- A thickened right ventricle
- A hole in the heart where muscle should have grown (called a VSD).
- The aortic valve gets pulled forward.
Hancock Friesen says these defects come on a spectrum of severity. TOF with pulmonary atresia, like that of Kimmel’s son, is one of the most serious.
“It’s a very extreme form where there’s actually no pulmonary valve,” she said. “So the blood flow to the lungs comes from different sources.”
With pulmonary atresia there is merely a plate in place of a valve that should have grown and opened.
“These children have low oxygen supply in their blood because the blood flow is blocked from going out to the lungs,” she said. “Babies may have a murmur or turn blue.”
How are congenital heart defects diagnosed?
This team includes four cardiologists with dedicated practices in prenatal diagnosis and counseling. They also help plan families to meet the surgeon before the delivery and for care at or immediately after the delivery so the team is fully prepared when the child is born.
Hancock Friesen says experts are increasingly able to detect heart defects in unborn babies.
“In about 70 percent of the children who come to us with congenital heart disease, we know about it before they’re born, and that’s great,” Hancock Friesen said.
But there are still times when defects are hard to spot early, especially around the blood vessels outside of the heart.
“The heart doesn’t always pump blood in-utero the way it does once the baby’s born. So some of the heart defects babies are born with and ultimately diagnosed with don’t manifest until later.”
A TOF repair requires surgery to improve pulmonary blood flow and close the hole in the heart. How soon a child needs this surgery is different with each patient.
“We look at the anatomy and the physiology to decide what’s best in each situation,” Hancock Friesen said.
“Ideally if a child can wait until around four months of age, that’s when we will do do the repair, but sometimes we don’t’ have the luxury to wait that long.”
Many times, when a TOF is diagnosed before being born, Dell Children’s puts a medical team on standby in case the baby needs emergency surgery, as Kimmel’s son did.
Advice for new diagnosis
As medical care, technology and treatments have advanced, babies born with congenital heart defects are living longer and healthier lives, many into adulthood.
Dr. Hancock Friesen has this advice for parents who receive a diagnosis:
- Don’t read too much: There’s so much information out there. Some of it’s good and some of it’s not, and a lot of it’s scary and hard to put into correct context.
- Find a specialized care team: Get engaged with a regional heart team that will help you understand the diagnosis and what it means. TOF requires a dedicated group of clinicians to make decisions at every step of the way.
- And get to know that team: Having a unified team that you’ve developed a bond with is critical. The team should work together on all aspects of your child’s care. “A coordinated care team is an important asset and the best starting point for your child’s care and your mental well-being,” said Hancock Friesen.