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Down syndrome with Heart Defect
Background
Down syndrome is caused by trisomy of chromosome 21 (the child carries an extra chromosome 21). 40 per cent of children with Down syndrome have an associated heart defect.
These heart conditions vary from small holes in the heart to more complex problems, which may require major open heart surgery. The commonest problem is holes between the upper and lower pumping chambers of the heart with one common heart valve in the middle of the heart instead of two (known as an atrioventricular septal defect or AVSD). However, any heart condition can occur. Rarely, the condition is so severe that the child is not able to have an operation to improve their condition, but the vast majority of children are suitable for surgery and their prognosis is very good.
