Tetralogy of Fallot is a medical condition in which a group of birth defects alter the way the heart works, changing the normal blood flow through the heart. Comedian Jimmy Kimmel recently shared that his newborn son was treated for the medical condition.
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We talked with Robert Stewart, MD, to learn more about this rare condition. Here are 5 things to know about Tetralogy of Fallot:
1. Tetralogy of Fallot is a group of heart abnormalities that you are born with.
Tetralogy of Fallot is a complex congenital heart defect with four components:
- A large hole between the two ventricles or pumping chambers in the heart, which is called a ventricular septal defect.
- A narrowing beneath or in the blood vessel leading to the lungs, called pulmonary stenosis.
- Overriding of the aorta, in which the aorta lies directly above the ventricular septal defect. Normally, the aorta is connected to the left ventricle, and oxygenated blood flows out of the ventricle into the aorta.
- As a result of these events, the right ventricle becomes thickened or hypertrophied.
2. The tell-tale sign of tetralogy of Fallot often is a bluish tint to the skin.
In most cases, the defect is severe enough at birth that lack of oxygen causes a bluish tint, called cyanosis, to develop in a baby’s skin, lips and fingernails. The bluish tint occurs because the oxygen level in the blood leaving the heart is below normal.
Cyanosis usually gets progressively worse over the first few weeks of life, and tetralogy of Fallot usually is diagnosed quite early, although it can go undiagnosed for a few months or even up to several years.
Tetralogy of Fallot can also be diagnosed prenatally, with fetal echocardiograms.
3. Treatment of tetralogy of Fallot involves surgery.
The complete repair procedure for tetralogy of Fallot involves closing the ventricular septal defect and relieving the pulmonary stenosis.
When these repairs are done, the overriding aorta is incorporated into the correct left ventricle and the right ventricular thickening regresses.
Also, a temporary shunt can be placed to relieve the cyanosis if there are issues that prohibit a complete repair in infancy.
Timing of the surgical procedure and which treatment option is used is based on the patient’s individual condition.
4. Tetralogy of Fallot is a lifelong medical condition.
Over the past few decades, the diagnosis and treatment of tetralogy of Fallot have improved greatly. Most children who have this heart defect survive to adulthood.
Tetralogy of Fallot patients require life-long follow up with a cardiologist to ensure the best possible health outcome.
5. Tetralogy of Fallot is rare.
The defect occurs during the heart’s development before birth. But its exact cause is still unknown.
Tetralogy of Fallot is named after the physician who first described this condition in 1888.
It occurs in about five of every 10,000 births and affects boys and girls equally. About 15 percent of people with tetralogy of Fallot have a specific genetic abnormality that is also linked to other birth defects such as cleft palate.