8. What can you expect when you visit the paediatric cardiologist?

What can you expect when you go to see the paediatric cardiologist?

          Being told that you or your child might have a birth defect of the heart can be a very stressful situation. Remember that often the suspicion of a heart defect might turn out to be wrong and there might be nothing wrong with your or your child’s heart. Even if there is a problem with the heart it is minor in the majority of patients and may require no treatment or only oral medication.

          During your visit to the paediatric cardiologist your child will be weighed and height ed  Observations including heart rate, breathing rate, blood oxygen level (oxygen saturation) will be carried out by the clinic nurse. The doctor will examine the child’s heart and then decide if further tests are needed.

          

          The tests that are commonly carried out include echocardiography (ultrasound scan of the heart), ECG or electrocardiography (electrical tracing of the heart’s activity), Chest X-ray. Occasionally the cardiologist may decide that cardiac catheterization (explained in previous post) is required to further define the problem.

          

          An echo-cardiogram is an ultrasound scan of the heart (similar to the scan you may have had during pregnancy). This scan helps to look at the heart structure and identify heart defects. It is painless and totally non-invasive. Most children enjoy watching the picture of the heart on the monitor and I liken it to watching TV! I also use this opportunity to explain to the patient or family the various parts of the heart and to point out the abnormalities. An ECG involves placing some electrodes on the chest which help to trace the heart's activity on paper. This is particularly useful when there is suspicion of a problem with heart rhythm.

          

          Once tests have been performed the doctor will be able to explain the problem if there is one or reassure you that all is well. Sometimes further tests may be required. You may or may not need medications or other forms of treatment

7. Treatment of heart defects

Can heart defects be treated?

Many heart defects are minor and require no treatment at all. They may only need regular monitoring. Some heart defects require only oral medications. Some holes in the heart (atrial septal defect, ventricular septal defect, patent ductus arteriosus) and blocked valves (pulmonary or aortic stenosis) can be treated without an open heart procedure using key-hole techniques. More complex heart problems may require surgery.

What are key-hole procedures?

Key-hole procedures involve a technique called cardiac catheterization where a small tube is inserted into the blood vessel at the top of the leg. This is then used to direct catheters (tubes) into the various chambers of the heart. Sometimes these procedures are used to diagnose a problem (diagnostic catheterization) and at other times to treat the problem (interventional catheterization).

Some of the conditions that can be treated using this technique are atrial septal defect (hole between the top two chambers of the heart), ventricular septal defect (hole between the two bottom chambers of the heart), patent ductus arteriosus (extra connection between the lung artery and body artery) and coarctation of the aorta (narrowing of the body artery).

Holes in the heart can be closed without surgery using an umbrella device. This device is placed across the hole and the two discs of the device open on either side of the hole sealing it completely. The device gradually becomes part of the heart and the heart forms a lining or skin over the device. Device closure is a permanent treatment and the hole remains sealed even when the child’s heart grows.

Valves in the heart can become narrowed and these can be relieved using balloons which can be placed across the valve and expanded causing the valve to split open. This procedure which is called ‘Balloon Valvoplasty’ is carried out without surgery using a key-hole approach from the top of the leg.

Sometimes major blood vessels or arteries can be blocked and this can be treated by a procedure called ‘stenting’ where a metal cage is inserted across the narrowed part of the artery and helps to keep it open.

6. How are heart defects detected in children?

How can heart defects be detected in children?

          Heart defects can present at various ages in children. The age of presentation depends on the type and severity of defect.

Some complex, severe defects are obvious right from birth or within a few days of birth. Usually these conditions present with bluish discoloration of the skin (cyanosis) or pallor and poor circulation. If you find these features in a newborn baby make sure you take them to hospital IMMEDIATELY.

Less severe conditions may be detected later in life either due to breathlessness and feeding difficulties or as an incidental finding of a murmur (unusual noise from the heart) which is picked up by the family doctor. Heart defects cause feeding problems in small babies and the typical pattern is that they cannot feed very long so they take small feeds frequently and are constantly hungry. They can also become very sweaty during feeds or when crying. Babies with heart problems are also more prone to getting chest infections or pneumonia which may sometimes need admission to hospital.

Older children can present with chest discomfort/pain and palpitations (awareness of abnormal heart beating). Chest pain in children is usually not related to the heart but a careful examination and assessment should be performed before reassuring the family. Palpitations may be the sign of electrical disturbances in the heart and these can be easily treated nowadays. So thorough investigation is required.

5. Heart and circulation in the unborn baby

       The main difference in the circulation of an unborn baby is the fact that the lungs have no function within the mother's womb. The baby is floating in fluid and the lungs are therefore in a collapsed state. The baby gets oxygen rich blood from the mother's circulation through the placenta. This blood passes from the right upper chamber into the left side of the heart through a hole in the atrial septum (wall between the two top chambers of the heart) which is called the patent foramen ovale (PFO). This hole usually seals off after birth but in 30% of people can still remain open in adult life. This is a normal finding and should not cause any alarm.
       The oxygen rich blood that has reached the left side of the heart is then circulated through the body via the aorta to supply the brain and other organs of the baby. The right side of the heart contains oxygen poor blood and this is pumped into the pulmonary artery (artery to the lung). As the lungs are collapsed this blood does not really have an easy way forward and is diverted through the ductus arteriosus or 'duct' into the aorta which supplies the lower half of the body.

       This form of circulation ensures that important organs like the brain get oxygen rich blood whilst the peripheral organs make do with oxygen poor blood. The duct usually closes within a few days after birth. In some babies particularly premature babies the duct can remain open leading to Persistent Ductus Arteriosus or PDA which may need closure in later life.  

4. The Normal Heart

Hello after a small gap! 

         My next series of blogs will focus on the normal heart and circulation. We will look at what happens in the circulation of the unborn baby and how this changes after birth.

How does a normal heart work?

          The normal heart has 4 chambers, 2 on the right side and 2 on the left side. The upper chamber on the right side is called the right atrium (RA) and the lower chamber is called the right ventricle (RV). Similarly the upper chamber on the left side is the left atrium (LA) and the lower chamber is the left ventricle (LV). There are valves between the upper (collecting) and lower (pumping) chambers on both sides of the heart. The left sided valve is the ‘mitral valve’ and the right sided valve is the ‘tricuspid valve’.

The right sided chambers contain oxygen poor or blue blood and the left sided chambers contain oxygen rich or red blood. The right and left sides of the heart are separated by a wall. The wall between the upper chambers is the atrial septum and the wall between the lower chambers is called the ventricular septum.

‘Blue’ blood from the right pumping chamber is pumped into the lungs through a vessel (tube) called the pulmonary artery. ‘Red’ blood from the left pumping chamber is pumped into the body through a vessel called the aorta. 

3. Can these heart defects be prevented?

Can anything be done to prevent these heart defects?

          Although there are no clear cut causes of birth defects of the heart it has been seen that vitamin and folic acid supplements can have a beneficial effect in reducing the incidence of these defects. Folic acid is also of benefit in preventing spine defects in the baby. This is most effective if taken even before conception. So, if you are planning to get pregnant, start folic acid supplements before you start trying for a baby.

          The other important precaution you can take is to make sure that you have been immunized against rubella. This is routine nowadays as part of the vaccination program but if you have a doubt about whether you have been immunized you can get your antibody level checked. If you have not been immunized you should get immunized before you get pregnant.

Image of the unborn baby's heart (normal in this patient)

Apart from these measures the only other thing you can do if you are a high risk mother is to get a fetal echo-cardiogram done to detect abnormalities early in pregnancy.

2. On the same subject of birth defects of the heart detected during pregnancy

Are there certain mothers who are at higher risk of birth defects of the heart?

          

          Certain mothers can be at higher risk of having babies with birth defects of the heart. However this risk is still very small. So, if in normal population the risk of having a baby with a heart defect is 1 per 100 (1%), this risk increases to 2-5 per 100 (2-5%) in high risk mothers. So even in high risk mothers more than 95% of the babies will have a normal heart.

Who are the women at a higher risk of having a baby with a heart defect?

·         Diabetic mothers

·         Family history of previous child with heart defect or if one of the parents has a heart defect

·         Detection of other abnormalities in the baby e.g. spine, kidney problems

·         Exposure of the mother to rubella infection (fever & rash) during pregnancy

·         Mothers who have undergone IVF treatment

What should these ‘high risk’ mothers do?

          These mothers should have an early anomaly scan followed by a specialized scan of the heart of the unborn baby. This scan is called a fetal echo-cardiogram and can be performed at 16-18 weeks of pregnancy. Here the baby’s heart is examined in detail to look for any abnormalities. When performed by skilled and trained professionals this scan will pick up most of the major abnormalities.

What can be done if there is a heart defect?

          The majority of heart defects are now treatable. Minor defects may need no treatment at all. Some might need only medications or minor procedures. Very complex heart defects may be more difficult to treat. So, deciding what to do if a heart defect is picked up in a pregnant woman depends on what the defect is, whether treatment is available and of course what the parents and family want to do. The doctors involved in the care of the pregnant woman will need to discuss with the family the options that are available to manage their pregnancy.

1. What leads to birth defects of the heart?

        Birth defects of the heart occur in approximately 8 out of 1000 live births i.e. roughly 1% of all babies born alive. It is one of the most common birth defects.

So, what leads to heart defects like holes in the heart or valve blocks in babies?

Unfortunately there is no single answer to this question. The majority of times there is no explanation as to why a patient has developed a certain heart defect. If you take patients with heart defects roughly 10% have some identifiable genetic problem. Of course there are still thousands of genetic problems that we are yet to discover. If a baby has a genetic problem (e.g. Downs Syndrome) there is roughly a 30% chance that the baby will have a heart defect. This defect may be minor requiring no treatment or major requiring some form of surgery or key hole treatment.

What about the mother’s health? Does this play a part in giving rise to heart defects?

          

       I commonly come across parents who feel guilty and responsible for their baby being born with a heart problem. It is important to understand that the majority of heart defects have no known cause and are not due to anything that might have occurred during pregnancy. The heart structure is formed very early on in pregnancy (8-10 weeks), sometimes even before the lady realizes that she is pregnant. Any abnormality of the heart is ‘programmed’ into the cells even beforehand. So, eating certain foods or undertaking certain activities does not give rise to heart defects.

What is the purpose of this blog spot?

     Having trained and worked in the UK in a system where communication with patients and their families along with their active participation in care and decision making is the norm I am keen to develop this practice back in India. 

     I believe that patients and parents deserve and need to know and understand their/their child's health and illnesses. It is the responsibility of their doctor and other health care providers to help them in this process. 

     In my line of work I deal with complex birth defects of the heart and perform difficult keyhole procedures. Although at times it is tempting to simplify the situation and presume that the patient or parent will not understand I always remind myself to explain the problem using simple language and drawings so that the patient or parent has an opportunity to understand the important issues and can then become an active participant in their or their child's care. 

     In this blog spot I aim to post information related to congenital heart disease (birth defects of the heart) including available procedures and treatments. This information can be accessed by general public and I will then try to answer any questions or queries that arise from these posts. Of course you will have the opportunity to discuss any other issue related to your or your child's heart defect on this forum. Remember that I am a specialist in congenital heart defects (birth defects of the heart for example holes in the heart, valve problems etc) and not in heart attacks that happen in later life. 

     I eventually want parent groups to take shape through this forum where patients and their parents can form their own self help groups to assist each other through their difficult times of illness. 

     Birth defects of the heart can be picked up in all age groups ranging from the unborn fetus (during pregnancy) through childhood and adolescence to the full grown adult. As the name suggests these defects are present from birth but may be detected at various stages in life. Sometimes in a high risk mother (I will explain what a high risk mother is in a separate post) a scan during pregnancy can pick up a defect in the heart. At other times the defect may be detected soon after birth due to blueness of the baby. Sometimes a routine visit to the child specialist can help pick up the problem. Rarely the problem gets noticed only during adult life. 

Anyway, time to sign off now. Will see you again :)