Tetralogy of Fallot: fetal diagnosis to surgical correction

Tetralogy of Fallot is one of the most common forms of cyanotic congenital heart disease. The diagnosis consists of four main anatomic features: a large ventricular septal defect (anterior malaligned), overriding aorta, right ventricular outflow obstruction and right ventricular hypertrophy. The refinement of fetal screening and echocardiography has led to an increase in prenatal diagnosis. Prenatal diagnosis along with the recognition of extracardiac anomalies and genetic abnormalities, including 22q11 deletion, sets the framework for prenatal counseling and can help predict the postnatal course and surgical repair. After birth, the degree of cyanosis and the presence of other extracardiac and cardiac abnormalities will direct the timing of surgical repair. Full surgical repair within the first year of life, either primary or after a palliative procedure, is the mainstay of therapy. Our understanding of the consequences of prior era surgeries and the detrimental effects of long standing pulmonary insufficiency has led to newer surgical and interventional techniques. Tetralogy of Fallot is a lifelong disease that requires careful follow up through adulthood with the potential for additional surgical and interventional procedures later in life.