CONGENITAL HEART DEFECTS : SYMPTOMS, DIAGNOSIS, AND THERAPY

Congenital heart defects - are all valve and septal defects that occurred in the womb before the actual birth . But also the congenital vascular disorders of the heart are among the classic heart defects. The incidence of congenital heart disease is relatively high at about one percent of newborns.


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Frequencies of individual heart defects

However, the incidence of individual heart defects is much higher, as the following examples illustrate:

  • 31% ventricular septal defect
  • 5 - 8% aortic coarctation
  • 7% atrial septal defect
  • 7% persistent ductus arteriosus
  • 7% pulmonary valve stenosis
  • 3 - 6% aortic valve stenosis
  • 5.5% Fallot tetralogy


In atrial septal defect , the septum between the right and left atrium of the heart is not closed even after birth. Since there is an overpressure in the left atrium, oxygen-rich blood also enters the right atrium. Of course, there is also an atrial septal defect, the so-called ductus botalli. This is trained in all unborn children. It serves primarily as a short circuit defect to circumvent the non-functional pulmonary circulation. In newborns, the ductus botalli is therefore not a congenital heart disease, but is a physiological condition that begins to close after birth.

An equally common defect in congenital heart disease is the ventricular septal defect . The dividing wall between the right and left ventricles is not closed, so that blood from the left into the right ventricle presses. Depending on the size of the defect, oxygen deficiency or shortness of breath may occur.

Other congenital heart defects are usually associated with larger blood vessels leaving the heart. For example, the aorta and pulmonary artery may be reversed in origin. As a result, only oxygen-poor blood enters the body, which is incompatible with life. Stenoses (constrictions) in the area of ​​the pulmonary valves or the aortic arch are also quite common. In the so-called Fallot tetralogy , four groups of heart defects occur simultaneously - a ventricular septal defect, a pulmonary valve stenosis, an enlargement of the right heart and an aortic anomaly. In general, the more severe the heart defect, the more likely heart surgery is to be the only remaining therapy.

Some heart defects in detail

A heart defect is usually not necessarily discovered at birth. More often symptoms occur later in life. Only in some cases are the symptoms so serious that the heart defect can be detected even before birth or within the first few weeks of life. Then usually the pulmonary artery and the pulmonary valve are affected. Blood flow from the right ventricle into the lungs is affected by heart failure and symptoms of hypoxia can occur.

a) Pulmonary atresia

In this type of heart defect, the three flaps of the sails do not open or are not formed. As a result, the blood can not flow from the right ventricle into the pulmonary artery. The blood does not flow through the lungs and can not be oxygenated.

b) Pulmonary valve stenosis

Pulmonary valve stenosis is also a defect in the valve leaflets of the pulmonary valve. This opens only incompletely in cardiac activity, whereby the outflow path of the blood is restricted. Through this narrowing, the heart has to build up a higher pressure to pump blood into the lungs.

c) The Fallot tetralogy

This clinical picture of congenital heart disease is very complex. It actually consists of four different congenital heart defects that occur simultaneously. First, this is a pronounced pulmonary valve stenosis, a ventricular septal defect - a hole in the muscle wall between the left and right ventricles. The overpressure in the right ventricle due to pulmonary valve stenosis constantly forces blood through the ventricular septal defect.

The resulting low-oxygen mixed blood leads to the formation of oxygen deficiency symptoms in the systemic circulation. In addition, Fallot tetralogy has an aortic abnormality that can affect blood transport from the heart.

d) The transposition of the large cardiac vessels

In 5% of all cases, a very serious congenital heart defect occurs - the so-called transposition of the large cardiac vessels. This refers to a faulty connection of the aorta and pulmonary artery to the heart chambers. The aorta arises here in the right ventricle. At the same time, the pulmonary artery is discharged from the left ventricle. As a result, no oxygen-rich blood enters the systemic circulation; a deadly constellation that requires immediate postnatal surgery to save the newborn.

Defects of the heart septum

Frequently children are born, who have a heart defect in the area of ​​the heart septum. These may be smaller or larger wall defects that cause mixed blood in the affected atria or ventricles. Mixed blood arises because oxygen deficient blood from the body is mixed with oxygen-rich blood from the lungs via the defect. The result is blood with a lower oxygen content than necessary. Depending on the size of the septal defect, symptoms of different severity occur. If the hole is very large, it produces very low-oxygen mixed blood and the oxygen supply of the body suffers.

This can be recognized by an altered, rather bluish skin coloration and an increasingly lower load capacity of the child. In these cases, only pediatric cardiac surgery can help to close the defect through surgery. However, smaller defects usually remain unrecognized for years due to their weaker symptoms. Very often, heart defects are detected via the ECG, cardiac catheter or other imaging techniques. The doctor will discuss the best course of action with you as the parent of the affected child. In addition, not every heart defect must be operated on the same.

Often, it is sufficient to first check smaller septum defects regularly by means of ECG. Especially in infancy or childhood, many holes in the heart septum between the right and left half of the heart close by themselves. Fortunately, surgery is usually superfluous.

However, if a hole persists later and such a heart defect is not treated, threaten sometimes serious complications, such as inflammation, cardiac arrhythmia, valvular heart disease or permanent lung damage.

Congenital heart defects in adolescents

If a child grows up in the course of his or her youth, combinations of an already corrected congenital heart defect and newly acquired heart defects can occur. Therefore, it is also not uncommon that operators later undergo a heart surgery again. To reduce the risk of scars and repeated stress on the child's body and mind, today, as a rule, all atrial septal surgeries can be performed as a minimally invasive procedure. If severe heart defects are treated as early as infancy, studies have also shown that children then continue to develop normally.

Symptoms of congenital heart disease

A whole range of symptoms may be evidence of congenital heart disease. Often the pediatrician is the first port of call when these symptoms occur. But how can you identify a possible congenital heart defect in your child?

The main cause of the occurrence of symptoms is the increasing lack of oxygen. This becomes visible on the basis of the cyanosis (blue coloring) of skin, lips and nail beds. In addition, however, other symptoms such an accelerated or difficult breathing, listlessness and pale, damp cold skin occur. Also, shortness of breath, tiredness, tachycardia and swelling of feet, ankles or stomach occasionally occur in a congenital heart defect.

Diagnosis and therapy of congenital heart defects

The entire spectrum of congenital heart defects ranges from the very simple heart defect, which affects the cardiovascular system only slightly, to the very serious heart defect, which leads to an early death without suitable therapy. Overall, no normal life expectancy can be achieved without surgical therapy for moderate and severe congenital heart disease. Due to the improved modern diagnostic methods, many of the heart defects are already recognizable within the first year of life. However, particularly severe heart defects associated with poorer oxygenation are very distressing to the child after birth and require rapid treatment.

The prenatal diagnosis makes it possible today to diagnose congenital heart and vascular malformations very early. Many of the severe heart defects are already diagnosed prenatal, ie prenatal. The antenatal diagnosis is not there to be able to schedule an early abortion in severe congenital heart defect. Rather, an optimal care for the newborn after birth is to be made possible.

Many congenital heart defects cause loud heart sounds as the blood flow is swirled or shorted due to narrowing or broken heart valves. Such heart sounds can be detected very easily by stethoscope. Depending on the type of noise, its origin can be determined.

Also important for the diagnosis of congenital heart defects is the electrocardiogram, also abbreviated as ECG. Through the derivation of the cardiac currents, the doctor can infer the size and position of the heart and, above all, cardiac arrhythmias.

However, the most important diagnostic method today is echocardiography. This ultrasound examination shows the heart in all its structures very accurately. Thus, almost all heart defects are visible. In addition, the heart function can be assessed and the condition of the individual heart components can be estimated. This examination method is used for any suspected congenital heart disease. It is completely painless and without risk and is therefore used as a very gentle procedure in children.

Further, usually much more specialized investigations are used depending on the type of suspicion. In order to determine a congenital heart defect more accurately, there is the possibility of cardiac catheterization, at the same time an intervention can be done on a heart valve. Other imaging techniques include magnetic resonance imaging (MRI / MRI) and computed tomography (CT).

All intervention for the purpose of therapy, both surgical cardiac surgery and interventional with cardiac catheter, aim to close the congenital heart defects (holes, shunts). At the same time, constrictions, so-called stenoses, can be treated or heart valves can be repaired. Thus, the full or at least a gradual capacity of the diseased heart is restored.

Severe heart defects in the operating room

For very severe heart defects, a simple corrective surgery is often impossible. In this case, several steps must be taken to stabilize the patient and improve his quality of life. The highest priority is ensuring body and lung circulation. Usually, doctors create artificial connections to create mixed blood, so that at least a minimum supply of oxygen is guaranteed. It is interesting that the heart can be bypassed. Low-oxygen blood is passed directly from the large body veins into the pulmonary artery and there enriched with oxygen. This relief of the heart may improve blood flow, which may improve cardiac arrhythmias and thus increase the quality of life.

Transposition of the large cardiac vessels

A particular challenge among the severe congenital heart defects is the transposition of the large vessels of the heart. The artery leading to the lungs is located at the site of the aorta in these children and the aorta in turn branches off into the lungs. This makes it virtually impossible for oxygen-rich blood to enter the body. Without the rescue operation, these newborns die very soon after birth. The oxygen exchange takes place in the first days of life only via so-called postnatal shunt openings. Therefore, surgery must be performed within a few days after birth. The large body artery and the pulmonary artery are loosened in this OP of the heart, exchanged against each other and connected in their correct position with the heart again.

Is there a precaution for congenital heart defects?

In fact, there are a number of known risk factors that can have a damaging effect on the developing heart. It is therefore important to avoid these risk factors in the first place. Especially girls should be vaccinated against rubella so that they do not fall ill during a later pregnancy. If you also need medication during pregnancy, you should consult a doctor before taking it. Among the risky products are mainly over-the-counter medications and vitamin tablets. Alcohol and nicotine forbid themselves during and after pregnancy (lactation).

Especially important for expectant mothers is participation in all prenatal examinations. During these regular inspections, a congenital heart defect can be detected during pregnancy, ie before birth. For this purpose, the baby's heart is examined more closely during pregnancy with ultrasound. The more skilled the doctor in this case and the better the ultrasound device used, the higher the likelihood that a possible heart defect will be detected safely.

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