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Tetralogy of Fallot (TOF) is a congenital heart defect which is classically understood to involve four anatomical abnormalities (although only three of them are always present). It is the most common cyanotic heart defect, representing 55-70%, and the most common cause of blue baby syndrome.
It was described in 1672 by Niels Stensen, in 1673 by Edward Sandifort, and in 1888 by the French physician Étienne-Louis Arthur Fallot, for whom it is named.[1]
“Tetralogy” denotes a four-part thing in various fields, including literature, and the four parts the syndrome’s name implies are its four signs. (Some confusion is possible with teratology, a field of medicine concerned with abnormal development and congenital malformations, which thereby includes the tetralogy of Fallot as part of its subject matter.)
As such, by definition, tetralogy of Fallot involves exactly four heart malformations which present together:
There is anatomic variation between the hearts of individuals with tetralogy of Fallot. Primarily, the degree of right ventricular outflow tract obstruction varies between patients and generally determines clinical symptoms and disease progression.
In addition, tetralogy of Fallot may present with other anatomical anomalies, including:
Tetralogy of Fallot with pulmonary atresia (pseudotruncus arteriosus) is a severe variant[7] in which there is complete obstruction (atresia) of the right ventricular outflow tract, causing an absence of the pulmonary trunk during embryonic development. In these individuals, blood shunts completely from the right ventricle to the left where it is pumped only through the aorta. The lungs are perfused via extensive collaterals from the systemic arteries, and sometimes also via the ductus arteriosus.
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