Pediatric Heart Diseases and Treatment

Congenital heart diseases

Congenital heart diseases are structural conditions present in the heart from the moment a baby is born, arising in the early stages of pregnancy. Approximately eight of every 1000 babies born have a congenital heart disease. The risk is higher if the mother, father or close relatives have a congenital heart disease. Although there are many types, most of them consist of holes in the walls that separate the heart chambers and narrowings in the heart valves and blood vessels. In some cases, there are more severe conditions such as a chamber, valve or vessel of the heart not developing at all. Holes differ greatly from one another in terms of their size, number and location; narrowings differ in terms of their location and whether they are mild, moderate or severe.

What are congenital heart diseases?

1. Ventricular Septal Defect (VSD): A VSD is suspected when a murmur is heard on physical examination. In these children, the family often reports frequent lung infections and failure to gain weight. The definitive diagnosis is made by echocardiography. Angiography is also performed if necessary. If the VSD is not very small, its treatment is surgical. Generally, depending on the patient's complaints, surgery is performed before the age of one. The VSD is closed. The surgical risk is below 3%. Cases with a higher risk are patients with multiple VSDs and serious lung problems due to late presentation.

2. Tetralogy of Fallot (TOF): Many other congenital heart diseases exist that result from the mixing of clean blood with dirty blood and are referred to colloquially as blue or purple babies. The most common of the cyanotic heart diseases, referred to as purple birth or blue baby, is Tetralogy of Fallot (TOF). It is seen in 3 cases per 10,000 births. It accounts for 6% of all congenital heart diseases. It is more common in those with certain genetic and chromosomal anomalies (DiGeorge and Down syndrome). It is suspected when cyanosis and a murmur appear after birth. The full diagnosis is made by echocardiography. The treatment of Tetralogy of Fallot is surgical. A complete repair operation is performed before the child reaches one year of age. The timing of the surgery is determined by the degree of the child's cyanosis and hypercyanotic (tet) spells. Babies who need surgery at an early stage can, if the case is suitable, undergo complete repair without needing a shunt operation at centers that are large and experienced. The risk of Tetralogy of Fallot surgery is below 5%. In cases of Tetralogy of Fallot, after complete repair surgery, there is a low probability that re-operation may be required in the future due to pulmonary valve insufficiency. However, in recent years, the likelihood of re-operation in the future has been reduced by using techniques that keep pulmonary insufficiency at a lower level.

3. Transposition of the Great Arteries (TGA: transposition): In these patients, the aorta, which should normally arise from the left ventricle, arises from the right ventricle; the pulmonary artery, which should arise from the right ventricle, arises from the left ventricle. In cases where these great arteries are reversed, ideally complete repair should be performed with open-heart surgery within the first 2-3 weeks, before the left ventricle's pumping capacity declines. In this condition, which we call transposition of the great arteries, the arterial switch operation is performed today.

4. Single Ventricle: Normally, the heart contains two pumping systems. One of these is the left side of the heart, which sends the blood coming from the lungs through the aorta to nourish all the organs of the body. The other is the right side of the heart, which sends the dirty blood coming from the entire body to the lungs to be oxygenated. In some complex heart diseases, one of these two structures does not develop well and the blood in the two systems mixes. In these patients, two separate pumping systems cannot be created by surgery. In these patients, which we call the single ventricle group, a series of operations is required and timing is very important. In these cases, clean blood (oxygenated blood) and dirty blood (low in oxygen) mix inside the heart. The blood going to the lungs and the blood going to the rest of the body need to be balanced after birth. For this purpose, if too much blood is going to the lungs, a pulmonary arterial banding operation that narrows the pulmonary artery should be performed within the first few months to reduce the blood going to the lungs. If too little blood is going to the lungs, the condition known as a blue baby develops. In these patients, a shunt operation (with an artificial vessel placed between the systemic artery and the pulmonary artery) is required to increase blood flow to the lungs. After 2-3 months, a bidirectional Glenn operation is required, which directly connects the upper body vein to the pulmonary vessel. When this patient reaches 2 years of age, the final step, the Fontan operation, is performed, which connects the dirty blood coming from the lower half of the body to the pulmonary artery. In all these operations, timing is very important. If the child presents late, this chance of surgery may be lost. In the past, life expectancy without these operations was very short; now, with appropriate timing, long life expectancy is achieved in these babies with the completion of the Fontan operation. After the Fontan operation, 10-year survival is above 80%, and 20-year survival is above 60%. Within this group of diseases are also all congenital heart diseases in which repair to two ventricles is not possible, such as hypoplastic left heart, hypoplastic right heart and tricuspid atresia, double-inlet left and right ventricle, complete atrioventricular septal defects without a balanced ventricular structure, and right and left isomerism of the heart, which we refer to as heterotaxy.

What causes congenital heart diseases?

Congenital heart diseases develop in the very early stages of pregnancy, in the weeks when the organs are just beginning to form. In most cases, the cause is unknown. It is known that some are hereditary, but only a few diseases have been linked to genes. In some genetic conditions (Down syndrome, Turner syndrome), the risk of congenital heart disease is high. The mother taking medications that can harm the baby during the first three months of pregnancy, contracting an infection (such as rubella), or being exposed to radiation can cause congenital heart diseases. Often, when the family history is investigated, no cause that could lead to a congenital heart disease is found. For this reason, it is generally accepted that congenital heart diseases arise through the effects of hereditary causes and environmental factors. Whether there is a heart disease in the baby in the womb can be investigated with an ultrasonographic method called "Fetal Echocardiography" (see Fetal Echocardiography).

What are the symptoms of congenital heart diseases?

Congenital heart diseases are very diverse. In some, there are no symptoms or the symptoms are very mild, while others may have a very severe course. Severe heart diseases give symptoms within the first few months, even within the first few days. These symptoms may appear as cyanosis (bluish discoloration) in the baby, feeding difficulties, tiring while nursing, rapid breathing, shortness of breath, failure to gain weight, or frequent respiratory tract infections (pneumonia, bronchitis). In older children, fatigue, palpitations, chest pain and fainting may be seen. In some diseases, the patient has no symptoms or they are insignificant, and they present only with a murmur heard during examination.

What should children with congenital heart disease pay attention to?

It should not be forgotten that congenital heart diseases are very diverse and may require special follow-up for the disease. However, in most cases the general precautions taken are the same. To protect the heart from infection (infective endocarditis), in some special invasive situations the child needs to take antibiotics. The situations requiring protection, the antibiotic dose and the timing of administration are explained to the family by the treating physician, and a "Protection from Infective Endocarditis" guide is given to them (see Infective Endocarditis).

In most children with congenital heart disease, no activity restriction is needed. On the contrary, sports and activity should be encouraged to support the child psychologically and to improve heart performance. In some diseases, however, the child is prohibited from activities requiring excessive effort, such as "competitions". This must be determined definitively by the pediatric cardiologist following the child, and the child should not be kept away from sports unnecessarily. This is because precautions are determined according to the type and severity of the disease. These children are directed to activities requiring less effort. Children with congenital heart disease should have their vaccinations done like all healthy children, and in some cases additional vaccines may be needed. The nutrition of children is the same as in healthy children and includes general dietary rules. In some special cases, a diet may be needed. Children generally continue their normal education. In some patients, activity restriction may be needed. Measures such as not climbing stairs at school, attending classes on the ground floor, or not taking part in physical education classes can be taken to ensure the child continues attending school. Children should be regularly monitored by a pediatric cardiologist.

What is infective endocarditis?

Infective endocarditis is an infection of the inner lining of the heart, its valves or its blood vessels. Although it is very rare in people without heart disease, the risk increases in children with heart disease. The microorganisms causing the infection are most often bacteria living in the mouth and throat. These bacteria normally do not harm healthy people. However, in children with heart disease, when they enter the bloodstream, they can cause very dangerous heart infections. For this reason, mouth hygiene and dental care are very important in these patients. Children with heart disease should brush their teeth regularly and go for dental check-ups. These children need to be given protective antibiotics in situations where there is a risk of bacteria entering the bloodstream. These risky situations include mouth and dental procedures that may cause bleeding, tonsil and adenoid surgeries, and urinary tract and reproductive organ surgeries. The booklet given to families to protect against infective endocarditis contains detailed information about risky situations, the recommended antibiotic dose and the timing of administration.

What is a murmur?

A murmur is the "blowing" sound caused by blood flow in the heart and blood vessels, which the physician hears while listening to the heart during examination. A murmur is heard in almost all heart diseases, both congenital and acquired, due to disturbed blood flow. However, the murmurs most commonly encountered in children are those heard without any disturbance in blood flow. These murmurs are given names such as "innocent murmur" or "normal murmur". "Innocent murmur" is frequently used because it is the term that best expresses that there is no heart disease. An experienced physician can often distinguish whether the murmur heard is innocent. If the murmur is innocent, no further investigation is necessary. If the physician is not sure about the nature of the murmur, the patient should be referred to a Pediatric Cardiology Specialist. In some cases, it may be difficult to distinguish by examination whether a murmur is innocent; in these cases, echocardiography is the most reliable method for confirming the diagnosis.

What is fetal echocardiography?

It is the imaging of the baby's heart while it is in the mother's womb, using ultrasonography. Ultrasonography is an imaging method that has been used safely in medicine for many years and is performed using sound waves. It has no known harm to the baby or the mother. The baby's heart can ideally be monitored from the 16th-18th weeks of pregnancy onward. The best imaging is generally performed between the 20th and 24th weeks. The pregnancies in which fetal echocardiography should be performed are summarized below:

Suspicion of a heart problem in the baby during an ultrasonographic examination by an Obstetrics and Gynecology specialist,

Presence of congenital heart disease in the family (mother, father, siblings and close relatives) (in these cases, the risk in the baby increases),

Diabetes in the expectant mother or its onset during pregnancy,

Presence of connective tissue disease or phenylketonuria in the mother,

The mother having encountered a situation that could harm the baby's organs during the first 3 months of pregnancy (such as medications, alcohol, certain infections, radiation),

Detection or suspicion of a chromosomal abnormality in the baby (such as Down syndrome),

Detection of an abnormal condition in other organs of the baby (kidney, brain, stomach-intestines, skeleton, cleft lip-palate),

Finding increased nuchal thickness in the baby,

Persistently high or low fetal heart rate, detection of rhythm disturbance,

In some cases, fetal echocardiography is recommended in advanced maternal age pregnancies (over 35 years old), multiple pregnancies (twins, triplets) and IVF pregnancies.

Procedure: Fetal echocardiography is a painless procedure performed through the mother's abdomen with an ultrasound device and has no known harm. The image of the baby's heart varies according to the baby's gestational week, size, position, the baby's position relative to the mother's body, the mother's body structure (thin-overweight) and the quality of the device. The echocardiographic examination lasts approximately 15-30 minutes. This time is extended in cases where the image quality is poor or in patients suspected of having a complex anomaly. The diagnosis of some congenital heart diseases in the womb is easy, but in some cases, it can be very difficult to make a definitive diagnosis. In some diseases, the severity of the lesion may increase as the pregnancy progresses; in these cases, it is beneficial to repeat the procedure at certain intervals. With this method, the chance of making a correct diagnosis in the baby in the womb ranges between 65% and 90%, depending on image quality. If a disease is detected on fetal echocardiography, it often does not require intervention and the baby is monitored with echocardiography after birth. In some heart diseases, however, the situation is more severe and early intervention with surgery or interventional methods is required. It is recommended that the deliveries of pregnant women in this group take place in a center equipped to intervene for the baby, and the necessary preparations for the baby are made. In some rare heart diseases, however, the situation is very severe and complete repair is not possible with surgical or interventional methods in these patients. For babies in this group, it is recommended that the pregnancy be terminated after informing the families about the disease. The information on the subject must definitely be given by a pediatric cardiology specialist and, in some cases, together with a cardiothoracic surgeon. Depending on the family's decision, the pregnancy is either terminated or continued. In some heart diseases, treatment of the baby in the womb can be performed by giving drug therapy to the mother.

What is acute rheumatic fever?

Acute rheumatic fever is commonly known as "heart rheumatism" or simply "rheumatism". Rheumatism is caused in children by group A beta-hemolytic streptococci (briefly, beta), which cause pharyngitis and tonsillitis (tonsil inflammation). If a child who has a throat infection does not take antibiotics at the appropriate dose and for the appropriate duration, the risk of catching rheumatism arises. The risk is very low in patients who are treated. It is most commonly seen in children between the ages of 5 and 15. Symptoms appear approximately 2-3 weeks after the throat infection. It primarily affects the heart, joints, skin and brain. Generally, the first noticeable sign is swelling, pain, increased warmth and mild redness in the joints (knees, ankles and wrists). Its most important effect is on the heart. It causes damage and dysfunction of the heart valves. In some children, due to involvement of the brain, involuntary abnormal movements of the face, hands, arms and legs (chorea), behavioral disorders and personality changes may be seen. Skin findings are rare. Patients should be placed under observation with treatment started at the moment they are diagnosed.

Does rheumatic heart disease get better?

Mild heart valve diseases can improve over time in the early stages, but the damage is often permanent.

Does every throat infection lead to rheumatism?

Only throat infections caused by group A beta-hemolytic streptococci lead to rheumatism. Rheumatism does not develop after other viral and bacterial throat infections. For differentiation, a throat culture should be taken or other differential tests should be performed. In throat diseases caused by streptococci, sore throat, fever and painful swelling of the neck are typically noticeable. Sometimes the findings may be milder, and in this case the diagnosis becomes difficult for the patient.

What should a child who has had rheumatic fever pay attention to?

If a child who has once had rheumatic fever gets another beta infection, the risk of the disease recurring is very high. For this reason, it is essential to protect children who have had rheumatic fever from catching the same infection again. This protection is based on long-term protection of the patient with regularly given antibiotics. The child is protected from recurrence of the disease by penicillin given as an injection once every 3 weeks or by antibiotics taken orally every day. The duration of protection is lifelong if the heart is involved, and up to age 21 if the heart is not involved. As in congenital heart diseases, in rheumatic heart diseases the damaged valve in the heart carries a risk of infection. For this reason, patients should pay attention to mouth hygiene, dental cleanliness and health. Depending on the severity of the heart valve disease, exercise restriction and diet may be necessary.

Chest pain in children

Chest pain is a complaint seen mostly in adults. It is a condition well known and taken seriously by society because it is a very important sign of a heart attack. Chest pain also occurs in children; in fact, after headache and abdominal pain, chest pain is the 3rd most common pain in children. The main cause of chest pain in children is pain from the musculoskeletal system of the chest wall. Apart from this, chest pain in children can also be seen due to lung diseases, asthma, stomach-esophagus diseases, heart diseases and psychological causes. The most important of these are pains caused by heart diseases. These diseases most often originate from the heart muscle or from the coronary arteries that supply the heart muscle. If the coronary arteries have developed incorrectly from birth or if there is blockage or compression in the vessels, the heart muscle cannot be nourished and chest pain appears, just as in adults. Unlike adults, chest pain in children is rarely due to heart and vascular diseases. However, if the cause of chest pain is the cardiovascular system, these diseases can have very serious consequences and should be diagnosed and treated early. Children who have chest pain especially during or after exercise, together with fainting, easy fatigue or palpitations, must definitely undergo further investigations for heart diseases.

Fainting in children

Temporary loss of consciousness that develops as a result of a sudden decrease in blood flow to the brain is called fainting (syncope). It is common in healthy children and adolescents. In fact, half of children who have reached adolescence have fainted at least once. Although it can be a frightening situation for the family, it often does not indicate a serious disease. The majority of fainting episodes seen in children are caused by activation of the autonomic nervous system, which we call simple fainting (vasovagal syncope). These types of fainting are more often seen in situations such as sudden pain, excessive anxiety, excessive excitement, standing for a long time, seeing blood and staying in the heat, and they are short-lasting. However, some fainting episodes can be a sign of a very important heart disease. Fainting can be seen in children with certain heart muscle diseases, congenital heart diseases and heart rhythm disorders (low or high heart rate). Dizziness and fainting that occur with exercise, fainting together with chest pain and palpitations, a history of easy fatigue, and a family history of fainting or sudden death require careful investigation of the heart and vascular system. Before fainting, patients may experience dizziness, weakness, blurred vision, nausea and hot flashes. As a result of falling during fainting, injuries may occur on the patient's body. In simple fainting caused by non-cardiac reasons, lying the patient down with the legs raised is usually sufficient. Generally, the patient regains consciousness within a few minutes after this first intervention. For fainting other than simple fainting, treatment methods vary depending on the underlying disease.