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Congenital heart defects

The cardiologist recognizes congenital heart defects as those that arise as a result of abnormal organogenesis, i.e. at the stage of the formation and development of organs in the fetus. These may be abnormalities in the structure of the heart, as well as its incorrect position or impaired functioning. Congenital heart defects are most often diagnosed in newborns right after birth. A neonatologist consults any suspicions as to their possible occurrence with a pediatric cardiologist. Some of them pose a direct threat to the life of a small patient, so it is important to diagnose as soon as possible. It happens very often that the cardiologist makes the decision about immediate surgery. About 3.5 thousand children with congenital heart defects are born in Poland each year and they are the most common congenital defects in children. Unfortunately, congenital heart defects are also the most common cause of death in newborns and infants.

 

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Symptoms

Human heart develops between 3 and 8 months of fetal life. During this period, the pregnant woman should be under close medical care and any symptoms that concern her, concerning not only her own health, but also the fetus, should be immediately reported to the attending physician.

It happens that congenital heart defects do not give any disturbing symptoms and are detected only at a later age, often accidentally, not necessarily immediately by a cardiologist.
Symptoms that should be worrying in newborns and young children:

- cyanosis - characterized by a blue - bluish color of the skin and mucous membranes,

- heart murmurs

- chest deformity - the so-called the heart hump, i.e. the abnormal prominence of the chest,

- breathing problems combined with unnatural sounds; whistling

- food intake disorders, difficulty swallowing, which may also appear later on when the child starts eating solids,

- circulatory failure,

- fainting, loss of consciousness.

Reasons for occurrence

In the vast majority of congenital heart disease in children, the cause is not clearly established. Only about 10% have a genetic burden. They are usually found by a cardiologist in children with Down's, Patau's, Edwards, Turner's syndromes and in other serious diseases associated with other congenital syndromes. The course of pregnancy in the mother and her lifestyle are also important in determining the basis of the occurrence of congenital heart defects in children. The newborn may be burdened with these defects as a result of passing certain viral diseases, such as rubella, through the mother during pregnancy, especially in the acute course of the infection. Also, taking certain medications by the mother, especially over a long period of time, can have a negative impact on the health of the newborn, including its heart. These include, first of all, anticancer drugs, antithyroid drugs, analgesics, hormones, chemotherapeutic agents (tetracyclines, aminoglycosides, sulfonamides), drugs affecting the central nervous system, and drugs.
Congenital heart defects in children can also arise as a result of alcohol abuse by mothers during pregnancy, and in children of mothers who smoke cigarettes. This is sometimes not necessarily because the mother is neglecting her condition and knowingly exposing her baby to disease, but sometimes she does not know she is pregnant for a while. A factor burdening a child with a congenital heart defect may also be, for example, diabetes, epilepsy, autoimmune diseases and cardiological diseases that are not treated during pregnancy. The cardiologist, when suspecting a congenital heart defect in a newborn, often asks first about the exact course of the mother's pregnancy.

Diagnostics

A doctor in charge of a woman's pregnancy can hear a heartbeat from a 6-week-old fetus. At 8-10 weeks of pregnancy, a four-chamber image of the heart should be visualized. Usually, between 11-14 weeks of pregnancy, the first ultrasound of the fetus is performed. It is also the first basic test that can identify or rule out a heart defect, although not always with full conviction during this period. The next details are revealed in the 20th - 24th week of pregnancy and then the test can be repeated.
The second basic examination is KTG - i.e. cardiotocography. It is a non-invasive, painless and safe test that monitors fetal heart function and uterine contractions. It usually takes about 30 minutes and is performed in the mother's supine position. It is usually scheduled routinely at the 25th week of pregnancy and then every few days until delivery, especially if the pregnancy is transferred, "late". KTG allows for early detection of a life-threatening situation for the fetus. If the attending physician discovers symptoms of concern for the mother at any stage of pregnancy, which may indicate a heart defect in the fetus, she immediately refers her to a prenatal cardiologist. Echocardiographic examination, the so-called The heart echo will allow the prenatal cardiologist to diagnose the type of congenital heart defect and the cardiovascular capacity. The examination usually takes about an hour and the doctor decides on the further procedure based on it; only follow-up, immediate surgery, or some other form of treatment.
If a prenatal cardiologist suspects a fetus has a congenital, genetic heart defect, he or she will usually refer the mother to an examination to determine the karyotype, i.e. the exact diagnosis of the entire range of abnormalities. Some of them, such as Patau's and Edwards' syndrome, have very poor prognosis, the baby usually dies in the first month of life. These types of prenatal tests are performed only at the express request of a prenatal cardiologist, because they are invasive and may complicate not only the pregnancy itself, but also threaten the mother. However, even the most accurate prenatal examinations do not guarantee 100% certainty about the diagnosis of certain congenital heart defects, for example the so-called Botalla arterial duct or inter-atrial septal defect. Therefore, observation of the newborn is very important, and any symptoms of congenital heart defects should not be ignored, even if the current diagnostics showed no abnormalities.

Some congenital heart defects, such as poor valve structure and abnormal heart connections, are usually diagnosed in newborns shortly after birth. It also happens that a pediatrician will diagnose them at a later stage, during routine check-ups of newborns or during later tests to check the proper development of the child, the so-called "Balance sheets". Then he will refer the mother with the child for further diagnostics and treatment to a pediatric cardiologist.

The most common congenital heart defects:

- ventricular septal defect (VSD),

- atrial septal defect (ASD),

- patent ductus arteriosus (PDA),

- pulmonary artery (PS) valve defects,

- aortic valve stenosis (AS),

- tetralogy of Fallot (ToF) - pulmonary artery stenosis with a defect in the interventricular septum, right ventricular hypertrophy and displacement of the aorta from above the septal defect.

Other congenital heart defects are less common and classified differently by the cardiologist, usually according to the symptom picture.

 

Treatment


Congenital heart defects are treated primarily by a pediatric cardiologist using surgical methods. Necessary treatments are usually performed in the first month of a child's life. Surgical correction of the heart defect restores its proper functioning and proper blood flow. In the case of valvular defects, a commissurotomy is performed, which consists in incision of the joined flaps of the pulmonary valve. Sometimes valves are also implanted; of animal or artificial origin.
In the surgical treatment of congenital heart defects, time is of the essence, it is important that the procedure takes place before the development of secondary pulmonary hypertension. Some heart defects are treated in the fetus even intrauterineally, i.e. during pregnancy. Others most often in the first days after giving birth. Every day in Poland about 10 children are born with a heart defect, 1/3 require surgery. Krakow cardiologists and cardiac surgeons are among the best in Europe, and several of them work at our facility. The main centers specializing in the treatment of birth defects in children are the Polish Mother Center in Łódź and the University Children's Hospital in Kraków-Prokocim. A radical and ultimate option to save the life of a child with extreme, life-threatening, circulatory failure is also a heart transplant. It is only considered when there is irreversible damage to the heart muscle. The main criterion for eligibility for heart transplantation is the estimated time of survival without surgery; less than 12 months. In Poland, there is almost no cardiac transplant in children. The reason is that there is a huge problem with finding child donors. Worldwide, only about 390 procedures of this type are performed annually.
It is also worth mentioning congenital heart defects that may not be detected in the first phase of prenatal or developmental tests. In case of any disturbing symptoms or suspicions of such a disease, the child should be immediately taken to the cardiologist, the basic examination, which is the echo of the heart, should dispel any doubts.

Rehabilitation

Rehabilitation after surgery is usually ordered by a pediatric cardiologist and it is very important. The first stage takes place in the hospital ward and is conducted by medical staff. After leaving the hospital, further rehabilitation usually takes place on an outpatient basis, and you should come with your baby in a specific time frame. Then there is home rehabilitation, carried out independently with the child, but of course according to the strict treatment of the cardiologist and therapist.
In the first days after surgery, it is important to protect the chest from mechanical damage. You should also absolutely remember to maintain proper hygiene within the scar. If there are no complications, the wound heals in 6-10 days. The stitches should be removed in the hospital. Parents are informed about further treatment, control, etc. by a pediatric cardiologist. Complete fusion of the sternum occurs after 6, and sometimes even after 12 months. In the first weeks after the operation, and even sometimes during the next 3 months, care should be taken that the child does not suffer any injuries, and it is also recommended that it avoid physical exertion. After this period, the child should begin to perform simple, light exercises to stretch the chest. In young children, of course, they are only possible with the help of an adult, a parent. Also important are breathing exercises, introduced gradually, initially under the supervision of a specialist, and then at home. They can be part of the game; an excellent breathing exercise is, for example, blowing bubbles, blowing through a straw, rolling paper balls with a stream of air, making a "storm in a glass of water", etc. In quite young children it is difficult and you should consult a specialist, preferably a pediatric cardiologist, no exercises by yourself. Young children should never be left unattended while exercising.

It is also worth taking advantage of special rehabilitation stays. You should ask your cardiologist about them, you should take all medical documentation with you there, because rehabilitation is selected individually for the patient. Sometimes sanatorium rehabilitation can be used many times, depending on the disease and the specialist's referral.
The cardiologist will certainly inform you about other recommendations related to everyday life, including diet. Mother's milk is always the best food for newborns, as long as the mother is healthy, eats healthy, does not smoke, and does not use any stimulants.
In the case of older patients, who are diagnosed with a congenital heart defect only years later, it will look like any other heart disease - healthy, easily digestible nutrition is recommended, based on a vegetable and fruit diet, vegetable fats, seafood and possibly lean meat . However, it is always worth consulting not only a cardiologist, but also a dietitian. He usually recommends eating small portions of well-balanced food 5 times a day, always remaining slightly unsatisfied. The least and most easily digestible food should be eaten in the evening.
It is important for patients to maintain a proper weight, obesity is unhealthy in both children and adults. Movement, especially in the open air, should be a constant part of every person's day. In young children, it is important to develop healthy habits that will bear fruit in adulthood. The goal of any rehabilitation is to restore the patient to normal functioning, or at least to the best possible condition for a given situation.

Consequences of the lack of treatment

It happens that small defects of the ventricular septum or atrial septum are asymptomatic and close on their own, usually within a few months of the baby's birth. Symptoms of major changes are heart murmurs, in which case untreated cavities may cause recurrent respiratory infections. Large, untreated cavities cause cardiac arrhythmias and circulatory failure. Untreated congenital heart disease is the most common cause of death in newborns and young children. This means that any disturbing symptoms, starting from the life of the child in the fetal phase, as well as any genetic burden, should be reported to the attending physician as soon as possible, and then to the prenatal cardiologist and pediatric cardiologist.

Sources:

  • „Położnictwo i ginekologia”- pod red. Tadeusza Pisarskiego PZWL, W-wa 2002
  • „Zespół wrodzonych wad rozwojowych u niemowląt matek zażywających w ciąży leki przeciwbólowe” - Anna Piórecka – Makuła, Maria Wróblewska – Kałużewska, Nowa Pediatria 2002
  • „Wybrane aspekty transplantacji serca u dzieci” - Lidia Hyla- Klekot, Beata Chodór,
  • Grażyna Kucharska, Jan Głowacki, Borgis - Postępy Nauk Medycznych 5/2007

FAQ:

Is it true that the fetus has no lungs but a heart?

Yes, it is essential that the fetus does not breathe through the lungs. It is very important for the fetus, the so-called Botalla arterial duct. It connects the left artery to the aorta so that the blood passes the pulmonary vessels. With proper development, this duct closes spontaneously within 24 hours after the baby is born and the newborn takes its first breath, as it is no longer needed.
If this does not happen, blood from the left ventricle, instead of flowing into the aorta and then into the tissues of the entire body, goes to the pulmonary artery and the lungs. This is a case that the cardiologist classifies as "patent ductus arteriosus" (PDA).

Can a congenital heart defect be completely cured?

Yes, of course, especially with a quick diagnosis and successful surgery. With genetic suspicions, prenatal diagnosis is extremely important.

Where can I find out about heart transplantation?

The need for heart transplantation is an extremely rare situation, in the vast majority of cases of congenital heart disease, surgical treatment is used to restore the patient's heart anatomy to normal. All information on transplantology can be obtained on the website of the Polish organization Poltransplant; www. Poltransplant.org.pl
There is also the Eurotransplant organization, associating some European countries, its aim is to create a common list of organ transplants (not only the heart). Heart transplants, especially in children, are still a taboo subject, hence a long waiting period if necessary.

 

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