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Tetralogy of Fallot (TOF), historically and appropriately referred as Steno-Fallot tetralogy, was first described by the Danish physician/anatomist Dane Niels Stensen, also referenced as Nicoulas Steno in Latin, a pioneer in anatomy and geology. His work made significant contributions to the field of cardiac anatomy and pathology. The discovery of the constellation of findings that hallmark the tetralogy was first described in a short paper titled “Dissection of a Monstrous Foetus in Paris” in 1671, highlighting the unusual form in which the arteries emerge, the narrowing of the pulmonary artery, the absence of the ductus arteriosus, a subaortic interventricular septal defect, an overriding aortic canal common to both ventricles, and the physiology of fetal cardiac circulation describing how blood was redirected directly into the aorta instead of the pulmonary artery. In 1777, Eduard Sandifort, a Dutch physician, reported a case of tetralogy in a 16-month-old patient called “the blue boy.” At first, he was thought to have asthma; however, an autopsy revealed a congenitally malformed heart with no signs of ductus arteriosus or ligamentum arteriosum. Later in 1782, William Hunter, a Scottish physician, presented to the Society of Physicians in London a case of a 13-year-old boy with tetralogy and blue spells, who was discovered posthumously in 1774, along with three other cases of congenital heart disease. Many other cases have been presented by Pulteney (1785), Abernethy (1793), Bell (1797), Dorsey (1812), and Farre (1814). The first case was reported in America at the University of Pennsylvania by Thaxter in 1816, with subsequent cases reported by Peacock (1858 and 1869), Widman (1881), and finally Fallot (1888). Etienne-Louis Arthur Fallot described in an elegant style and detail four cardinal features that differentiate it from other cyanotic cardiac conditions, emphasizing that this was not a product of chance and that cyanosis was not caused by a patent foramen ovale, as proposed by many others. He attributed it to an intrauterine pathologic process and understood that this tetralogy was essentially just one anomaly involving the pulmonary artery and the subpulmonary infundibulum, causing pulmonary stenosis, an interventricular communication, the biventricular origin of the aorta, and right ventricular hypertrophy, disqualifying the patency of the foramen ovale as a fifth anatomical association. The names used by Fallot were “La maladie bleue” (the blue disease) or “cyanose cardiaque” (cardiac cyanosis). In 1924, Maude Elizabeth Seymour Abbott, a pioneer in pediatric cardiology of Montreal, Canada, entitled it “tetralogy of Fallot.”

PMID: 30020660

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