Normal heart Pulmonary atresia with VSD

This is a serious heart condition in which there are two main abnormalities -1. the artery which normally allows blood to be pumped from the heart to the lungs (the pul-monary artery) is completely blocked, and2. there is a large hole (ventricular septal defect) between the two main pumping chambers(ventricles) of the heart.

In the normal circulation, blood passes through the lungs to collect oxygen from the air. Inbabies with pulmonary atresia less blood passes through the lungs and this reduces theamount of oxygen in the blood. This makes the baby (particularly the lips and hands) appearblue, and if the body becomes very short of oxygen the baby will die.

Before babies are born the two main arteries arising from the heart (one called the aorta,which feeds the body with blood and one called the pulmonary artery, which feeds the lungswith blood) are joined together by a short blood vessel called the arterial duct (often justcalled the duct). Most babies with pulmonary atresia appear well for a while because theduct allows the lungs to be supplied with blood from the aorta.

In normal babies the duct closes off by itself shortly after birth because it is no longer need-ed, but if the duct closes in a baby with pulmonary atresia the baby will become very blueand will die because no blood can get to the lungs. The duct can usually be prevented fromclosing by giving the baby a drug called prostin. This is often given as an injection into oneof the baby’s veins but can sometimes given by mouth. Drug treatment isn’t always safe forvery long periods, so most babies with pulmonary atresia will need an operation within thefirst few weeks of life to make sure they can feed their lungs with blood. This operationinvolves connecting the artery leading to one of the arms to the artery which leads to thelungs, and is called a "shunt" operation. This doesn’t make the baby’s heart normal, but itusually allows the baby to survive until he or she is old enough to consider more major sur-gery. Even major surgery later in life cannot make the heart completely normal and it is veryunlikely that any child with pulmonary atresia and VSD will have a normal lifespan.

Pulmonary atresia with ventricular septal defect

TestsUsually only simple tests such as an ultrasound scan of the heart (an "echo"), and an Xray ofthe chest are required, although some babies will need more complicated Xray tests (called acardiac catheterisation).

Other abnormalitiesSome babies with pulmonary atresia and VSD will have other abnormalities. The commonestof these is a genetic abnormality, where a small part of one chromosome is missing. Thisabnormality is called "22q11 deletion" and is sometimes called "Catch22". Although some chil-dren with 22q11 deletion grow and develop normally, some will have learning or speech diffi-culties and if your baby has 22q11 deletion it is important that his or her development is moni-tored so that help can be given early if necessary. A blood test to check for this abnormality isusually done, but it may take some weeks for the result to come back.

The shunt operationAll heart operations in babies are serious and will carry some risk of the baby dying or havingmajor complications such as brain damage, kidney damage or lung complications such aspneumonia. For shunt operations the risk of a baby dying is small (about 2 in 100) and the riskof brain damage is also small (probably around 1 in 100). These risks are higher if the babyhas other abnormalities or if the baby has been born prematurely.

Further surgery when the baby has grownAll children with pulmonary atresia and VSD who have had a shunt operation as a baby willneed further treatment when they are older. Exactly what this treatment will be depends verymuch on how the baby grows. One of the most important factors is how well the pulmonaryarteries grow. If they grow well it may be possible, with major surgery, to open up the blockagebetween the heart and the pulmonary artery (sometimes using a human or pig’s valve) and toclose the ventricular septal defect by sewing a patch over it. This is often referred to as"corrective" surgery, but it does not make the heart completely normal. Human or pig valvesmay become narrow as they age and it is possible that further surgery will be needed.Even many years after apparently successful surgery new problems may arise which requiretreatment. One of the commonest late problems is the development of abnormal heart rhythms.These can usually be treated, but can be serious and can even rarely be fatal, so regularreview in outpatients by a specialist is very important even if the patient appears well.

General advice for the futureMost children with major heart disease cannot manage as much physical exercise as a normalchild. We do not usually stop children with heart disease from doing exercise, as they usuallyknow best themselves when to stop and rest, but it is probably best to avoid really hard exer-cise and competitive sport.All patients with pulmonary atresia and VSD will be at risk of infection in the heart (calledendocarditis), both before and after surgery. Such infections may be caused by infections ofthe teeth or gums. It is important to visit the dentist regularly and to remind the dentist at eachvisit of the heart abnormality. You will be given an information card to help you with this. Ear orbody piercing and tattooing are best avoided as they also carry a small risk of infection whichmay spread to the heart.July 2008

Pulmonary atresia with ventricular septal defect page 2