Tetralogy of Fallot (TOF), formerly known as Steno-Fallot tetralogy, is a congenital heart defect characterized by four specific cardiac defects. Classically, the four defects are:
pulmonary stenosis, which is narrowing of the exit from the right ventricle;
a ventricular septal defect, which is a hole allowing blood to flow between the two ventricles;
right ventricular hypertrophy, which is thickening of the right ventricular muscle; and
an overriding aorta, which is where the aorta expands to allow blood from both ventricles to enter.
At birth, children may be asymptomatic or present with many severe symptoms. Later in infancy, there are typically episodes of bluish colour to the skin due to a lack of sufficient oxygenation, known as cyanosis. When affected babies cry or have a bowel movement, they may undergo a "tet spell" where they turn cyanotic, have difficulty breathing, become limp, and occasionally lose consciousness. Other symptoms may include a heart murmur, finger clubbing, and easy tiring upon breastfeeding.
The cause of tetralogy of Fallot is typically not known. Risk factors include a mother who uses alcohol, has diabetes, is over the age of 40, or gets rubella during pregnancy. It may also be associated with Down syndrome and other chromosomal defects that cause congenital heart defects.
TOF is typically treated by open heart surgery in the first year of life. The timing of surgery depends on the baby's symptoms and size. The procedure involves increasing the size of the pulmonary valve and pulmonary arteries and repairing the ventricular septal defect. In babies who are too small, a temporary surgery may be done with plans for a second surgery when the baby is bigger. With proper care, most people who are affected live to be adults. Long-term problems may include an irregular heart rate and pulmonary regurgitation.
The prevalence of TOF is estimated to be anywhere from 0.02 to 0.04%. Though males and females were initially thought to be affected equally, more recent studies have found males to be affected more than females.
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A congenital heart defect (CHD), also known as a congenital heart anomaly, congenital cardiovascular malformation, and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular disease. Signs and symptoms depend on the specific type of defect. Symptoms can vary from none to life-threatening. When present, symptoms are variable and may include rapid breathing, bluish skin (cyanosis), poor weight gain, and feeling tired.
Atrial septal defect (ASD) is a congenital heart defect in which blood flows between the atria (upper chambers) of the heart. Some flow is a normal condition both pre-birth and immediately post-birth via the foramen ovale; however, when this does not naturally close after birth it is referred to as a patent (open) foramen ovale (PFO). It is common in patients with a congenital atrial septal aneurysm (ASA). After PFO closure the atria normally are separated by a dividing wall, the interatrial septum.
A ventricular septal defect (VSD) is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart. The extent of the opening may vary from pin size to complete absence of the ventricular septum, creating one common ventricle. The ventricular septum consists of an inferior muscular and superior membranous portion and is extensively innervated with conducting cardiomyocytes. The membranous portion, which is close to the atrioventricular node, is most commonly affected in adults and older children in the United States.
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