What is the prevalence of tetralogy of Fallot (TOF)?

Updated: Nov 13, 2018
  • Author: Shabir Bhimji, MD, PhD; Chief Editor: Yasmine S Ali, MD, FACC, FACP, MSCI  more...
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Answer

Tetralogy of Fallot (TOF) represents approximately 7%-10% of congenital heart diseases (CHDs), [2] and it is the most common cyanotic CHD, with 0.23-0.63 cases per 1,000 births. [1] This disorder accounts for one third of all CHD in patients younger than 15 years; in adults, tetralogy of Fallot has an estimated prevalence of 1 in 3,500 to 1 in 4,300 people. [2]  

In most cases, tetralogy of Fallot is sporadic and nonfamilial. The incidence in siblings of affected parents is 1-5%, and it occurs more commonly in males than in females. The disorder is associated with extracardiac anomalies such as cleft lip and palate, hypospadias, and skeletal and craniofacial abnormalities. Genetic studies indicate that in some patients with tetralogy of Fallot, there may be 22q11.2 deletion and other submicroscopic copy number alterations. [17]

Adult patients with tetralogy of Fallot currently represent a very large group of patients who underwent congenital heart surgery in early life. Although the exact number of these adults is not known, because many are lost to follow-up or have never been followed, it is estimated that over two thirds of affected children who undergo repair of tetralogy of Fallot in early childhood will reach adulthood, with one study showing 94% survival rate of 168 patients aged 16 years and older who underwent simple repair. [16]  For individuals born with this condition, the 30-year survival is above 75%, provided these individuals have been clinically followed. Limited data to date reveal that adult tetralogy of Fallot is equally common in both sexes.

The majority of adult patients with repaired tetralogy of Fallot present after the second or third decade of life. Males and females appear to be equally affected with symptoms as they age. [18]


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