Pediatric Cardiology

Congenital Heart Defects in Children: Types, Symptoms and Treatment

Posted on by Prof. Dr. İbrahim Cansaran TANIDIR

Congenital heart diseases in children are anatomical disorders that occur in the structural parts of the heart during development in the womb. These diseases may be seen as a hole between the heart chambers (such as ASD, VSD), valve stenosis (such as aortic stenosis, pulmonary stenosis), vascular anomalies (such as APCA, fistula, aortic coarctation), or incorrect positioning of the great vessels (transposition of the great arteries – TGA, D-TGA – double outlet right ventricle -DORV-) and may present clinical symptoms from birth.

Congenital heart defects seen in newborns most commonly include structural disorders such as ventricular septal defect, atrial septal defect, and tetralogy of Fallot. These conditions may prevent the heart from pumping oxygenated blood sufficiently to the body, causing cyanosis, feeding difficulty, and growth retardation.

Cyanotic and acyanotic heart diseases in babies are classified into two main groups according to their clinical findings. Cyanotic conditions cause bluish discoloration due to decreased oxygen levels in the blood, while in acyanotic defects, symptoms such as heart murmur, rapid breathing, and frequent infections are more prominent.

In pediatric cardiology, congenital heart anomalies are diagnosed with echocardiography, fetal ultrasonography, and advanced imaging methods. Thanks to early diagnosis and appropriate surgical or interventional treatment practices, life expectancy and quality of life can be significantly increased.

What You Need to Know Information
Definition Congenital heart diseases are structural disorders of the heart or great vessels that occur during development in the womb. They are present at birth and may be mild, moderate, or severe.
Frequency They are seen in approximately 0.8–1% of live births. They are more common in premature babies and in some genetic syndromes.
Main Types Septal defects (ASD, VSD), patent ductus arteriosus (PDA), tetralogy of Fallot, transposition of the great arteries (TGA), pulmonary stenosis, aortic coarctation, tricuspid atresia, hypoplastic left heart syndrome.
Septal Defects The presence of an opening in the wall between the right and left chambers of the heart. Ventricular septal defect (VSD) is the most common. Small defects may close spontaneously; large defects may lead to heart failure.
Patent Ductus Arteriosus (PDA) Failure of the ductus arteriosus vessel, which is open in the womb, to close after birth. It may cause respiratory distress and cardiac overload.
Tetralogy of Fallot It is a cyanotic heart disease in which four different heart anomalies are present together. Bluish discoloration (cyanosis) is the most prominent finding.
Transposition of the Great Arteries It is the condition in which the aorta and pulmonary artery are switched. It causes severe oxygen deficiency in the newborn and requires urgent intervention.
Aortic Coarctation It is narrowing of the aorta. It may present with high blood pressure in the upper extremities and low blood pressure in the lower extremities.
Symptoms Bluish discoloration (especially on the lips and nails), rapid breathing, feeding difficulty, inability to gain weight, easy fatigue, frequent respiratory tract infections, fainting attacks.
Risk Factors Genetic predisposition, chromosomal anomalies such as Down syndrome, maternal diabetes, infections during pregnancy (e.g. rubella), use of certain medications and alcohol.
Diagnostic Methods Physical examination, detection of a heart murmur, echocardiography, electrocardiography (ECG), chest X-ray, fetal echocardiography (for diagnosis during pregnancy).
Treatment Options Follow-up, medication therapy (to reduce signs of heart failure), interventional procedures via catheter, surgical repair or corrective operations.
Complications Heart failure, growth retardation, pulmonary hypertension, rhythm disorders, risk of infective endocarditis.
Long-Term Follow-Up Regular follow-up by a pediatric cardiologist is required. Some patients may require lifelong monitoring and additional interventions.
Prevention Not all cases can be prevented; however, regular follow-up before and during pregnancy, protection from infections, and avoidance of harmful substances may reduce the risk.

What Causes Congenital (Structural) Heart Diseases in Children?

The issue that mothers and fathers wonder about most in this process and that usually causes them to blame themselves is what causes this condition. However, in most cases, it is very difficult to speak of a single cause in the emergence of these physical differences. Usually, a complex picture formed by the combination of genetic predispositions and environmental factors during pregnancy is mentioned. The formation of the baby’s heart coincides with the same time period as the development of the structures forming the nervous system. For this reason, a microscopic deviation during the migration and placement of cells in the womb may cause incomplete closure of the heart chambers or the vessels to lose their direction.

Genetic inheritance is one of the main determinants of this process. The presence of individuals in the family who previously had a similar structural problem slightly increases the risk in the unborn baby as well. In addition, the mother’s general health condition before and during pregnancy is of great importance. Diabetes that exists before pregnancy or suddenly appears during pregnancy is one of the best-known factors that can have negative effects on the baby’s heart development. Fluctuations in blood sugar may disrupt cellular communication in the first weeks when the embryo’s organ primordia are forming. Similarly, some serious viral infections experienced by the mother in the early stages of pregnancy, especially diseases such as rubella, may prevent the anatomical structure of the heart from closing. Some strong medications used unconsciously or necessarily during pregnancy, environmental toxins, and exposure to radiation may also affect the developing sensitive heart tissue. In babies with genetic and chromosomal differences such as Down syndrome, incomplete development of the chambers in the heart is a much more common condition. When all these factors come together, the construction of the walls inside the heart or the connections of the vessels that we can think of as pipelines may be incomplete or faulty.

What Is the Frequency of Congenital (Structural) Heart Diseases in Children?

Structural heart diseases are common enough not to be underestimated. Structural heart disease is seen in approximately one out of every 100 children. Although most of these improve over time without the need for treatment, one out of every 1000 children requires intervention. Acquired heart diseases (such as acute rheumatic fever, myocarditis, Kawasaki) and rhythm problems (SVT, VT, genetic arrhythmias – such as long QT, Brugada) are not included in these figures.

What Are the Risk Factors for Congenital (Structural) Heart Diseases in Children?

The main risk factors that increase the likelihood of these developmental differences are as follows:

  • Genetic predisposition
  • Consanguineous marriage
  • Chromosomal differences
  • Maternal diabetes
  • Infections during pregnancy
  • Unconscious medication use
  • Exposure to toxic substances
  • Radiation exposure
  • Advanced maternal age

How Many Groups Are Congenital (Structural) Heart Diseases in Children Divided Into?

According to the circulation dynamics of blood inside the heart chambers, pressure differences, and most importantly the oxygen level in the child’s body, these physical problems are basically examined by dividing them into two major groups. This classification is critically important both for understanding the effect of the problem on the body and for planning the treatment process. Whether the oxygen level of the blood decreases, that is, whether there is a sign of bluish discoloration (cyanosis) in the child when viewed from the outside, forms the basis of this distinction. In the non-cyanotic (acyanotic) group, the problem is mostly that more blood than necessary goes to the lungs and the heart becomes tired (such as ASD, VSD, PDA, AVSD, valve stenoses), while in the cyanotic group, the main problem is that enough oxygen cannot reach the body.

What Are the Non-Cyanotic (Acyanotic) Types of Congenital (Structural) Heart Diseases in Children?

In structural differences included in the non-cyanotic, medically called acyanotic, group, oxygen-rich clean blood located on the left side of the heart and coming from the lungs passes back to the right side of the heart through an unwanted hole in the heart. Since the left side of the heart pumps blood to the entire body, its pressure is very high; the right side has lower pressure because it sends blood only to the nearby lungs. When there is a hole between the two sides, clean blood rushes back to the right side, just as water flows from high pressure to low pressure. This condition is called a left-to-right shunt. As a result, a significant portion of the blood that should go to the body continuously returns to the lungs, and the blood load in the vessels of the lungs increases excessively.

The best-known example of this group is the presence of a hole in the wall between the right and left ventricles, the lower chambers of the heart. This condition, called Ventricular Septal Defect (VSD), is the most common structural heart problem. If the hole is small, it may not strain the heart very much and may close spontaneously as the child grows and the heart muscles develop. However, if the hole is large, the heart begins to tire after a while because too much blood will be pumped to the lungs, and permanent high blood pressure may develop in the pulmonary vessels. Another common condition is the presence of a hole between the atria, the upper chambers of the heart. This condition, called Atrial Septal Defect, usually causes no discomfort during childhood and is noticed completely by chance through a different sound heard during a routine examination. While the baby is in the womb, since the lungs do not work, there is a special vessel (patent ductus arteriosus, PDA) that directs blood away from the lungs. This vessel must close immediately after birth when the baby takes its first breath. The persistence of this vessel remaining open is another structural problem in the non-cyanotic group that severely strains the lungs, especially in premature babies.

What Are the Cyanotic Types of Congenital (Structural) Heart Diseases in Children?

Structural problems in the cyanotic group have a very different dynamic. In this condition, deoxygenated blood returning from the body to the heart is pumped back to the body by mixing directly with clean blood due to serious structural disorders in the heart before it can go to the lungs and be oxygenated. Since the fresh oxygen the body needs cannot sufficiently reach the tissues, bluish discoloration appears on the child’s lips, tongue, fingertips, and nail beds. This picture usually occurs when much more complex physical obstacles come together.

For example, in one of the best-known cyanotic conditions, four different anatomical problems are present at the same time. There is a large hole between the lower chambers of the heart, a severe narrowing in the main vessel going to the lungs, excessive thickening of the muscles on the right side of the heart, and the aorta, the main vessel that carries clean blood to the body, is positioned right in the middle of both chambers. Due to this complex structure, deoxygenated blood can easily mix with clean blood. These children may suddenly experience severe cyanotic spells, especially when they cry, become excited, or feed, because the pathway to the lungs narrows further. In another severe condition, the positions of the two great vessels leaving the heart are completely reversed. The vessel that should carry clean blood to the body is connected to the lungs, while the vessel that should carry deoxygenated blood to the lungs is connected to the body. In this condition, deoxygenated blood continuously circulates in the body, while clean blood remains continuously trapped in the lungs. If there is no small connection allowing blood to mix between the two systems, survival becomes impossible and very urgent intervention is required immediately after birth. Conditions in which the left side of the heart, namely the main motor that will pump clean blood to the body, has almost not developed at all in the womb are also included in this group, and in order for circulation to be maintained, the fetal vessels in the baby’s body must miraculously be kept open.

What Are the Symptoms of Congenital (Structural) Heart Diseases in Children?

The problems that occur and the signs that can be observed externally are as follows:

  • Bluish discoloration of the lips
  • Bluish discoloration of the nail beds
  • Bluish discoloration of the tongue
  • Frequent breathing
  • Getting tired quickly while breastfeeding
  • Excessive sweating
  • Inability to gain weight
  • Developmental delay
  • Feeding difficulty
  • Easy fatigue
  • Frequent lung infection
  • Chest pain
  • Palpitations
  • Fainting
  • Swelling in the fingertips
  • Weak pulse
  • Swelling in the legs
  • Hearing different sounds in the heart

How Are Congenital (Structural) Heart Diseases in Children Diagnosed?

Thanks to the point technology has reached in medicine, most structural problems in the heart can now be diagnosed while the baby is still in the womb. With detailed ultrasonographic examinations performed around the twentieth week of pregnancy, the baby’s heart chambers, vessel connections, and the functioning of the valves can be examined with great clarity. This early diagnosis is of vital importance in terms of planning delivery in a fully equipped center, keeping the necessary surgical team ready, and ensuring that the baby receives the most appropriate care as soon as he or she is born. For conditions that cannot be diagnosed in the womb or are not noticed until after birth because they are milder, there are highly reliable methods used during infancy and childhood.

The most basic, harmless, and informative method of the diagnostic process is imaging the heart with the help of sound waves. This method is completely painless, does not contain any radiation, and works just like ultrasound performed in the womb. Sound waves sent through the chest wall instantly reflect the walls inside the heart, the opening and closing movements of the valves, and the speed of blood flow onto the screen. It clearly reveals in which direction and at what speed the blood flows thanks to color mapping. In addition, devices that measure electrical waves are used to map the electrical activity of the heart, check rhythm regularity, and, when necessary, record the child’s heart performance over twenty-four hours. If the child’s complaints include fainting during exertion or suddenly starting rapid heartbeats, rhythm mapping plays a key role in diagnosis. In the postnatal period, a simple oxygen measurement performed especially before discharge also enables early detection of many silent and dangerous conditions that are not noticeable from the outside.

What Are the Diagnostic Tools Used for Congenital (Structural) Heart Diseases in Children?

The main tools physicians use during these detailed examinations are as follows:

  • Fetal echocardiography device
  • Pulse oximeter
  • Pediatric echocardiography device
  • Electrocardiography device
  • 24-hour rhythm Holter device
  • Exercise test device
  • Chest X-ray device
  • Cardiac angiography equipment
  • Magnetic resonance imaging device
  • Computed tomography device

What Are the Treatment Methods for Congenital (Structural) Heart Diseases in Children?

How the treatment process will be shaped is determined entirely according to the location and size of the structural problem in the heart, the child’s age, and general body development. Some small holes or very mild valve stenoses are only monitored at regular intervals, and these problems may be expected to improve spontaneously as the child grows. During this waiting period, diuretic or blood pressure-regulating medications may be used in order not to strain the child’s heart and to support the contraction power of the heart. However, if the structural problem has no possibility of closing spontaneously, strains the heart, has stopped the child’s growth, or carries the risk of leaving permanent damage in the lungs, intervention becomes mandatory. Today, these interventions proceed in two main branches: procedures performed through the vascular route without opening the chest wall and surgical procedures in which the heart is directly intervened. Thanks to the possibilities offered by modern medicine, many problems that once could only be corrected with very risky surgeries can now be solved with much more comfortable methods.

How Are Congenital (Structural) Heart Diseases in Children Treated Without Surgery?

Non-surgical treatment methods are excellent options known in the medical literature as interventional or angiographic methods, performed without making any incision in the chest wall, without opening the bones, and without stopping the heart. During these procedures, the body is entered through the vein or artery in the child’s groin area with very thin, soft tubes as thick as spaghetti pasta. Under the guidance of X-ray imaging systems and simultaneous ultrasonography performed through the esophagus, these tubes are advanced through the vessels directly into the heart. Holes between the atria or ventricles of the heart can be closed with great success using this method. To close the hole, occluder devices made of special metal alloys called nitinol, which take their predetermined shape at body temperature, are used. This device sent to the heart through the catheter opens like an umbrella when it reaches the point where the hole is located, firmly attaches to both sides of the hole, and completely prevents blood passage.

Similarly, heart valves that are congenitally fused and cannot open sufficiently can also be widened through this method. A catheter with a deflated balloon at its tip is placed right in the middle of the narrow valve. When the balloon is inflated, the fused valve tissues separate from each other and the blood flow pathway is opened. Vascular connections that remain open in premature babies can also be completely blocked and disabled with this method by placing spiral wires inside the vessel. The greatest advantage of non-surgical methods is that the child recovers very quickly after the procedure. Since the chest wall is not opened, pain is almost nonexistent, an intensive care period is usually not required, and children can be discharged from the hospital just one day after the procedure and return to their normal lives and games. Over time, the heart forms its own tissue in the area where the device is placed, and that externally placed umbrella becomes a natural part of the heart’s own wall.

How Is Surgical Treatment of Congenital (Structural) Heart Diseases in Children Performed?

In cases where procedures performed through the vascular route will be insufficient, the holes are too large, there are no strong rims for the device to hold onto, or multiple structural problems coexist, surgical treatment is the only and most reliable option. Surgical procedures are performed under general anesthesia in fully equipped operating rooms. During this process, a special device called the heart-lung machine is usually used. After the chest wall is opened during the operation, the entire blood circulation of the body is directed to this machine. The machine temporarily takes over the oxygenation task that the lungs should perform and the pumping task that the heart should perform. In this way, the beating heart filled with blood is completely stopped, emptied, and a highly delicate repair process begins in a motionless, bloodless field.

Surgeons close large holes inside the heart by suturing them with patches prepared from the patient’s own pericardium or with synthetic materials completely compatible with the body. The main vessels that are connected in reverse are cut from their places with great skill and reattached to the anatomically correct chambers. Artificial valves may be placed instead of underdeveloped valves when necessary, or the pathway may be widened by adding vascular patches compatible with the patient’s body to narrow paths leading to the lungs. After surgical repair is completed, blood circulation is transferred from the machine back to the heart and the heart is allowed to beat regularly again. In some special and complex cases, hybrid methods are used in the operating room environment, where both surgeons and physicians performing vascular procedures work together. Since the groin vessels are narrow in very small babies, the surgeon opens the chest wall and directly reaches the beating heart, while the other physician enters from outside the heart with a needle and places the device that will close the hole. After such major repairs, children are kept under close monitoring in intensive care for a while, supported with respiratory support devices, and go through a few weeks of rest for the bones in the chest wall to heal.

What Is the Process After Treatment for Congenital (Structural) Heart Diseases in Children?

After a successful closure procedure or surgical repair, a new and much more hopeful chapter begins in the lives of families and children. A very large proportion of children whose treatment is completed can catch up with the same developmental curve as their peers and live a healthy life. However, the healing process of the structural changes made in the heart and the adaptation of tissues to the new condition require a certain amount of time. Especially in children who have had an umbrella or occluder device placed in the heart through the vascular route, it takes approximately six months for the body to recognize this foreign material and completely cover it with a thin membrane tissue. During this period, regular use of blood-thinning medications is extremely important to prevent clot formation. In addition, since oral and dental health is directly related to the health of the inner lining of the heart, protective antibiotic treatment must be administered before tooth extraction or any surgical procedure that may cause gum bleeding in order to prevent bacteria from reaching the heart through the bloodstream.

In daily life, the vast majority of children who have undergone complete repair can continue their school life without problems, play in the park with their friends, and do sports to the extent their physical capacity allows. The dark, fear-filled days experienced with the diagnosis of the disease give way to a joyful growth journey after treatment. It is possible to reach a very high quality of life by not overstraining the heart, gaining healthy eating habits, and taking care to protect against severe respiratory tract infections in winter months. In later ages, these individuals can enter professional life, get married, and safely hold their own children in their arms. Continuing to monitor only the functioning and rhythm of the heart at regular intervals under ultrasound guidance is sufficient to preserve this wonderful result for life.

Güncellenme Tarihi: 13.10.2026

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