What is Tetralogy of Fallot?

Tetralogy of Fallot is a congenital heart disease affecting one in every 10,000 births. Tetralogy means “fourfold” — referring to the number of issues present in this heart defect. The four issues are: a hole between the lower chambers in the heart, an obstruction from the heart to the lungs, defective positioning of the aorta, and an enlargement of the muscles surrounding the right chamber. This defect allows deoxygenated blood into circulation causing cyanosis (blue coloring of the skin). Tetralogy of Fallot can be discovered through hearing a heart murmur or by seeing cyanosis. The defect can also be spotted on X-rays.

Tetralogy of Fallot in the Media

The condition has received media attention over the years, notably after the son of late-night talk show host, Jimmy Kimmel, was diagnosed with the condition.

Jimmy Kimmel shared his son’s story on Jimmy Kimmel Live, “A very attentive nurse at Cedars Sinai Hospital, her name is Nanush, was checking him out, and heard a murmur in his heart, which is common in newborn babies,” he explained. “But she also noticed he was a bit purple, which is not common.” The healthcare team ordered immediate tests.

“They determined he wasn’t getting enough oxygen into his blood. They did an echocardiogram, which is a sonogram of the heart, and found that Billy was born with a heart disease, something called Tetralogy of Fallot with pulmonary atresia.”

Kimmel finished his story by explaining his son had undergone surgery to open the pulmonary valve in his heart and will likely need follow-up surgeries into his teens. Fortunately, years later, Kimmel has shared that Billy is “doing great”.

Olympian Shaun White also has the condition, and went through several surgical repairs as an infant. But he spoke with Kimmel about how the condition has not negatively impacted his life, “My parents are the ones that really made me who I am … they didn’t put limitations on me. They obviously explained, ‘Hey, this is what happened, you should be cautious,’ but it wasn’t like this hovering over me to make sure I wasn’t getting into trouble or working out too much … they let me find my own limitations, that’s why I feel I’m so athletic now … because they never put that limit on me.”

Examples of Tetralogy of Fallot

Though Tetralogy of Fallot is relatively uncommon, many cases have been shared by healthcare professionals to Figure 1. The following cases demonstrate the features of the condition and how it is treated.

1. Cyanosis in a Newborn Baby

There are many possible causes of cyanosis in a newborn — and its appearance is always reason for more investigation. When it appears several hours after birth, as it apparently did in Billy Kimmel’s case, pneumonia or aspiration (water in the lungs) are suspected. Cyanotic congenital heart disease — such as Tetralogy of Fallot — is a less common cause. In this case, healthcare professionals worked through the tests and treatments needed to determine the cause of the child’s cyanosis.

2. An X-ray of a Boot-Shaped Heart
Tetrology of Fallot

This scan shows a “boot-shaped heart” with upturned cardiac apex (black arrow) from right ventricular hypertrophy/dilation. In this patient, the pulmonic valve is absent with massive enlargement of the pulmonary arteries (white arrows). Absence of the pulmonic valve is found in 3-6% of Tetralogy of Fallot patients and leads to pulmonic regurgitation — the circulation of blood that hasn’t properly passed through the lungs — as well as compression of the trachea/bronchi by the pulmonary arteries.

3. What Surgical Repair Looks Like

This patient is 19 years old, and is having the hole in the septum between the left and right ventricles repaired. The surgeons also replaced the pulmonary valve.

What Are the Long-Term Outcomes for Patients With Tetralogy of Fallot?

A study published in the European Journal of Cardio-thoracic Surgery followed four decades of people who had a surgical repair, and 30 years after repair, survival was slightly above 80%. The authors added, “If trends in late risks match those of the earliest repairs, 40-year survival will be ~90% for children repaired in the modern era.”

Originally published April 2017; updated February 12, 2022


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