Congenital heart diseases may be diagnosed by a foetal echocardiography performed on the 18th, 20th or 22nd week of pregnancy while the baby is still in the mother?s womb. The method involves the examination of the baby?s heart with the help of sound waves which do not inflict any harm on the baby or the mother.  

CONGENITAL HEART DISEASES...

Congenital diseases manifest themselves in a variety of anomalies such as perforations in cardiac chambers and vascular abnormalities and they may be diagnosed while the baby is still in the mother?s womb. Alcohol consumption by the mother, febrile diseases with rash, genetic propensity and consumption of medications during the first 12 weeks of pregnancy which are potentially harmful to the baby emerge to the foreground among the known causes of such diseases.? 
On the average, one out of one hundred live births turn out to be a cardiac patient baby. If left untreated, half of these patients lose their lives within the first year of their lives. It is possible to diagnose this disease while the baby is still in the mother?s womb; a task which necessitates good team work. Professor Ayşe Sarıoğlu, a Paediatric Cardiologist at Acıbadem Bakırköy Hospital starts explaining congenital heart diseases by detailing the structure of the heart. A normal heart has four chambers; two upper chambers called atriums and two lower chambers called ventricles. The separations dividing the atriums and the ventricles from one another are called septums. Veins transporting the de-oxygenated blood from the body bring the blood to the right atrium. From there, the blood passes into the right ventricle through the valve. It goes to the lungs through the pulmonary artery. From the lungs, oxygenated blood returns to the left atrium. From the left atrium, it goes to the left ventricle and gets pumped to the rest of the body by the aorta. The anomalies in this process are observed either in the cardiac chambers, in the vessels that leave the heart, the cardiac valves or the septum. Among the most frequently encountered anomalies are ventricular or septal perforations called ASD and VSD, vascular abnormalities and constrictions in the valves between the atriums and the ventricles.

THE CAUSES OF CONGENITAL HEART ANOMALIES

As for the causes of the disease ? It is only on the 15th day of the pregnancy that we see the formation of a heart cell cluster. Later on, this cluster undergoes certain transformations and a single tube emerges. From this tube are formed the cardiac chambers and vessels. This complex development gets completed during the first 12 weeks of the pregnancy. It is during this process that certain factors cause anomalies in the heart. Still, the cause of 90 per cent of all heart anomalies remains unaccounted for. In the remaining 10 per cent group, causes such as consumption of alcohol by the mother during the first 12 weeks of pregnancy, febrile diseases with rash, use of retinoic acid containing vitamins used in the treatment of acne or anti-epileptic medications emerge to the foreground. If the mother is a diabetic, the risk for the baby to have congenital heart disease is increased by three-fivefold. Associate Professor Özlem Pata, an obstetrician and gynaecologist at Acıbadem Bakırköy Hospital says that in such cases, just like there may be a small perforation in the heart, the baby may also be born with a significant problem like vascular abnormality. For diabetic mothers-to-be, she emphasises the importance of keeping their blood glucose level under control. The presence of collagen tissue diseases in the mother such as "systemic lupus erythematosus" may also cause arrhythmia.
Mentioning that the incidence of congenital heart diseases in the mother or the father or in their larger families increases the risk by fivefold, Professor Sarıoğlu continues as follows: "The presence of this disease in one of the siblings or close relatives increases the chances of contracting this disease. Another important cause is marriages of consanguinity. Furthermore, these disease are concomitant with diseases such as Down and Turner syndromes."

DIAGNOSIS IN THE MOTHER'S WOMB

Congenital diseases may be diagnosed while the baby is still in the mother?s womb."This is quite a task for us", so says obstetrician and gynaecologist Associate Professor Özlem Pata, and continues as follows:"We also encounter these diseases in the children of mothers who are not in any risk group. That is why we have to take a very careful history of the patient when we see the mother-to-be for the first time. She may think she is not doing anything harmful, but a detailed history may reveal the use of a medication she believes to be totally harmless."
One important point Associate Professor Pata underlines is that women with no previous history of the disease should get a Rubella vaccination before they actually get pregnant. Also, those who regularly take medication for diabetes or epilepsy should consult their physicians for switching to medications which are not potentially harmful for their baby. It is important for mothers-to-be to visit an obstetrician by the 6th or 7th week of their pregnancy. Explaining that the baby?s heart rate may be monitored as of day six of the 5th week of pregnancy, Associate Professor Pata says, "We want to see the mother-to-be around the time that the baby?s cardiac beats start. Has the pregnancy been successfully implanted? Is it a healthy pregnancy? These are questions we can answer right around that time of the pregnancy. By the time pregnancy progresses beyond week 6, cardiac beat is an excellent indicator of foetal health for us. At that time, we normally expect 110-115 beats per minute. Around week 8, this changes between 144-159 beats", she says.
In more advanced stages of pregnancy, between weeks 11-13, thickness of the neck of the baby is measured. Associate Professor Pata says, "If the neck of a baby is too thick, this is an indication for performing a foetal echo on that baby". She says they assess the situation with a paediatric cardiologist. When they encounter a cardiac anomaly, Associate Professor Pata says they check the presence of other concomitant diseases in the baby. She continues as follows: "As obstetricians, the first question we try to answer is whether or not this anomaly is accompanied by other anomalies and if the foetus is chromosomally normal. We consult paediatric cardiologists because they are the ones who determine the level of the anomaly and monitor the patients once they are born."
Professor Ayşe Sarıoğlu points out that the foetal echocardiography method allows for the diagnosis of cardiac diseases while the baby is still in the mother?s womb. A foetal echocardiography is performed on the 18th, 20th or the 22nd week of the pregnancy on those patients referred by obstetricians. Without inflicting any harm on the baby or the mother. the method permits the monitoring of the baby?s heart rates with the help of sound waves Although not in widespread practise, the trans-vaginal method performed on the 11th -14th weeks of risky pregnancies also allows for an accurate diagnosis. Explaining that early diagnosis is of utmost importance in the planning of treatment, Professor Sarıoğlu comments as follows:
"Approximately one third of congenital heart diseases necessitate intervention within the first month. The importance of early diagnosis cannot be overemphasised. When we identify such a baby, provided that the situation requires intervention as soon as the baby is born, we decide on the health organisation where the mother will be delivering the baby. We check the baby?s cardiac performance at certain intervals. Paediatric cardiac surgery may not be performed at each and every health organisation, therefore, the delivery has to take place at certain centres. As such, death risk and some complications may be avoided."
Indicating that certain methods applied in the world in recent years have allowed for intervention in these diseases while the baby is still in the mother?s womb, Professor Sarıoğlu states,"Some of these interventions are the enlargement of the valvular stenosis with the help of a balloon or the implant of a pacemaker. Unfortunately, the results are not too encouraging. However, as we encounter a higher number of diagnosis, treatment methods will continue to improve". Some heart rhythm problems may be treated by administering medication to the mother or to the baby through the umbilical cord.

ANOMALIES DIAGNOSED AFTER THE BIRTH OF THE BABY

Sometimes these anomalies may only be detected after the birth of the baby. The signs of the disease include sudden cyanosis (turning purple in colour), not being able to gain any weight and developmental delays, excessive perspiration, excessively fast heart beats, hyperventilation and premature fatigue while being breastfed. Professor Sarıoğlu points out that in previously undiagnosed cases, they examine the baby?s heart with echocardiography: "We have a gel-coated echo probe which we put on the chest of the patient to examine the structure of the heart. This gives us information on a variety of things such as the structure of the heart, its contraction rate and the extent of vascular stenosis". Professor Sarıoğlu says that the echo method by itself may be adequate in planning for the surgery, although sometimes an x-ray or an ECG may be requested. One of the performed methods is catheter angiography. A thin plastic pipe called catheter is inserted through the vessels in the groin area of the anesthetised baby, directed through the vessels all the way into the heart and contrast substance is injected. The films of the heart are thus obtained. In older children, we perform 24 hour rhythm monitoring or stress test. Indicating that every heart disease requires a different treatment, Professor Sarıoğlu says, "Some require immediate intervention as soon as the baby is born, some have to be addressed within the first six months". However, emergency intervention saves lives in serious problems such as vascular abnormalities."
Professor Sarıoğlu has the following comments regarding treatment methods: "It is not always necessary to operate. Sometimes we have patients who respond to medication treatment. Cardiac perforations (also called VSD) may sometimes be cured spontaneously within the first 2-5 years of life. However, severe cardiac problems are basically treatable with surgery and sometimes the catheter method." A neonatal with vascular abnormalities is operated on to change the locations of the vessels. A total correction may be achieved by changing the coronary arteries and the baby has a normal heart.
Although it depends on the type of the disease, it is recommended that children who get operated on fulfil their normal daily activities. Professor Sarıoğlu says, "We tell the families that children have to play games. We perform these operations so that children may play their games and live their lives to the full. Children who are cardiac patients generally rest when they get tired, anyway. Even if that is not he case, I do not want the mother to tell the child, 'Go slow, you have a sick heart'".

TREATMENT OF CONGENITAL HEART DISEASES TROUGH INTERVENTIONAL CARDIAC CATHETERISATION

Interventional methods may be performed at any age and they emerge to the foreground in the treatment of frequently encountered congenital heart diseases such as the stenosis of the large vessels leaving the heart and of the valves, or gaps between the cardiac chambers. Paediatric Cardiologist Associate Professor Arda Saygılı says, "Ever since cardiac catheterisations became routine in interventional cardiology, the need for open heart surgery has registered a sharp decline."
Apart from surgical interventions, interventional methods also emerge to the foreground in the treatment of congenital diseases. Depending on the type of the disease, the stenosis of the heart vessels may be opened up or gaps "perforations" may be closed. The basis of the treatment consists of a thin plastic pipe called catheter to be inserted from the groin and directed all the way up to the heart. In this way, angiographies are performed, and, later, the balloon or another device is thus transported to the heart. Associate Professor Arda Saygılı, a paediatric cardiologist at Acıbadem Bakırköy, Acıbadem and International Hospital hospitals states that stenosis of the aorta or pulmonary artery valve is a life threatening condition particularly in the neonatal period. Pointing out that 20 per cent of congenital heart diseases require urgent intervention, Associate Professor Saygılı explains the interventional cardiology method as follows:
"No interventional procedure should involve pain for the children or leave its mark as a painful memory. To achieve this objective, we have a paediatric anaesthesiologist ensuring control of pain and anaesthesia. Later, we first place a guiding catheter to a vein in the groin. Following angiographic measurements, if the problem turns out to be a valvular stenosis, for instance, we swell a balloon of an appropriate diameter in the area of the stenosis. This procedure takes less than an hour. The first of the basic interventional methods is angioplasty, the opening up of vascular stenosis with the help of a balloon. The second is a method called balloon valvuloplasty, performed in the case of a valvular stenosis. If the vascular stenosis does not relax, then we perform a stent implant. The third method is septestomy, the opening up of the compartment between the atriums, a condition encountered in complex congenital heart diseases. The fourth procedure is the performance of interventional methods in the closing up of cardiac perforations such as PDA, ASD and VSD."
Emphasising that the applicability and the success of the method is independent of age and weight, Associate Professor Saygılı continues as follows, "A detailed analysis of the location, diameter, morphology and the expression of the heart disease is an absolute must before deciding on the most appropriate method of treatment. For instance, if the cardiac perforation is small and located between the vessels, we resort to the interventional catheter method, enter from the groin and patch it up with a device in the shape of a spring wire. In the case of larger perforations, mushroom shaped devices of different sizes are used." Congenital heart diseases require a holistic approach. The characteristics of the healthcare centre and teamwork play a significant role. These diseases may be encountered in different stages of life ranging from before birth to the neonatal period, from childhood to adulthood. Writing a success story takes a team consisting of a risky pregnancies specialist, a neo-natologist, an intensivist, a cardiologist, an anaesthesiologist and a surgeon.

THE ADVANTAGES OF THE METHOD

"Anything and everything that is performed in Europe and the world with respect to the surgical or interventional treatment of congenital heart diseases is performed equally well by us", so says Associate Professor Saygılı and gives the following information as regards the interventional catheter method:
"Ever since the cardiac catheterisation method has emerged, there has been a decline in the need for open heart surgery. Paediatric interventional methods started in the eighties. The emergence of new devices over the past decade and their success in thousands of patients has helped include these methods in our routine applications." Another advantage of this method is the absence of any surgical incision marks on the chest area which are a natural result of open heart surgeries.
Although signs of congenital heart diseases are generally observable in the first days of the neo-natal, sometimes diagnosis may be made in later years. Explaining that they diagnose congenital heart disease in those patients who present with heart murmur, cyanosis, fainting spells, developmental delay or frequent upper respiratory tract infection complaints, Associate Professor Saygılı continues as follows:"Cardiac perforations such as PDA or ASD may express themselves at 20, even 80 years of age. We do not immediately refer our patients to surgery, initially we recommend the interventional method."