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Tetralogy of Fallot (TOF), formerly known as Steno-Fallot tetralogy, [9] is a congenital heart defect characterized by four specific cardiac defects. [4] Classically, the four defects are: [ 4 ] Pulmonary stenosis , which is narrowing of the exit from the right ventricle;
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]
Tetralogy of Fallot is actually the most common cause of cyanotic congenital heart defects, accounting for about 50-70%, as well as about 10% of all congenital heart defects in general. Now, it’s not quite clear why some babies develop TOF but it is associated with chromosome 22 deletions and DiGeorge syndrome.
Digital clubbing with cyanotic nail beds in an adult with tetralogy of Fallot. Signs and symptoms are related to type and severity of the heart defect. Symptoms frequently present early in life, but it is possible for some CHDs to go undetected throughout life. [15]
The condition has been called a severe form of Tetralogy of Fallot. [ 18 ] [ 19 ] [ 9 ] [ 20 ] [ 21 ] [ 12 ] [ 11 ] If deformed blood vessels coming from the thoracic aorta appear alongside this condition, the phenotype is renamed to pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals.
Abnormalities of the structure of the heart are commonly seen including ventricular septal defect, tetralogy of Fallot, and hypertrophic cardiomyopathy. [29] The condition presents early in life and the average life expectancy is 2.5 years with death most commonly caused by ventricular arrhythmias.
In 1948, a 15-month-old white female was considered to have isolated levocardia, tetralogy of Fallot with an auricular septal defect, a left aortic arch and a left superior vena cava. Her condition was temporarily improved but she still died 6 months after the operation from gradually developed cardiac failure and anuria with uremia and ...
All infants with TGA will need surgery to correct the defect. Life expectancy is only a few months if corrective surgery is not performed. [citation needed] Before surgery: For newborns with transposition, prostaglandins can be given to keep the ductus arteriosus open which allows for the mixing of the otherwise isolated pulmonary and systemic ...