Abstract

Tetralogy of Fallot (TоF) is a congenital heart disease that includes ventricular septal defect (VSD), right ventricular outflow tract obstruction, aortic root dextraposition, and right ventricular hypertrophy. TоF occurs in 3 out of 10,000 live births and accounts for 7–10% of all congenital heart defects. The etiology of TоF is multifactorial and may include untreated maternal diabetes, phenylketonuria, and retinoic acid intake. Associated chromosomal abnormalities include trisomies 21, 18, and 13, but recent studies indicate a much higher association with microdeletion of chromosome 22. The familial risk of TоF is 3%. The article presents the results of scientific publications about ToF. In particular, modern and topical issues of genetic predisposition, morphology, diagnosis, indications for surgical treatment, including radical and staged, are considered.

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