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The four features of tetralogy of Fallot are: 1. Ventricular septal defect (VSD); 2. An aorta that straddles the VSD with the latter communicating with both ventricles (over-riding aorta) instead of just the left ventricle; 3. Pulmonary stenosis or obstruction of the right ventricular overflow tract; 4. Right ventricular hypertrophy. This condition usually causes cyanosis early in life. Its severity depends on the degree of pulmonary outflow obstruction, which determines whether there is a left-to-right, or right-toleft shunt. In some patients, pulmonary blood flow is increased due to the presence of a patent ductus arteriosus. Patients with this condition may survive untreated into adult life, and a few may reach middle age. However, surgical correction is now possible and is desirable, as the disorder is ultimately fatal. Sometimes additional cardiac abnormalities may be present. (e.g. atrial septal defect, as was found in this case).
In most cases of tetralogy of Fallot, the cause is not known although in some patients, genetic factors play a role. For example, the condition is more common in patients with Down syndrome (Trisomy 21; in association with AV canal defects) or DiGeorge syndrome (22q11 deletion).
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