Heart defects: Information & heart defect specialists

Leading Medicine Guide Editors
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Leading Medicine Guide Editors

Around one percent of all newborns are born with a heart defect. These heart defects vary in severity. Some need to be operated on as soon as possible after birth, others only become apparent later. Children whose heart defects are successfully operated on can usually lead a completely normal life. Here you will find further information as well as selected heart defect specialists and centers.

ICD codes for this diseases: Q20, Q21, Q22, Q23, Q24

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Brief overview:

  • What is a congenital heart defect? Heart defects refer to heart valve and septal defects of the heart that have formed during the growth of the fetus. The baby is born with these defects.
  • Frequency: Around one percent of all newborns are born with a heart defect.
  • Types: By far the most common defect is the ventricular septal defect, which in turn is divided into three different forms. Other heart defects include pulmonary atresia, pulmonary valve stenosis, tetralogy of Fallot, transposition of the great vessels of the heart and defects of the cardiac septum.
  • Symptoms: Heart defects increasingly lead to a lack of oxygen. This is manifested by blue coloration of the skin, lips and nail beds, breathing problems, palpitations and other symptoms.
  • Diagnosis: Many severe heart defects are detected before birth. They cause loud heart murmurs, which can be quickly detected with a stethoscope. An ECG shows the heart waves. The most important examinations are echocardiography, an ultrasound of the heart.
  • Therapy: Only surgery can correct heart defects. Several operations are often necessary. Many congenital heart defects are operated on during the first year of life. Further operations may be necessary in adolescents.
  • Prevention: Girls should be vaccinated against rubella to avoid contracting the disease during a later pregnancy. Medication, smoking and alcohol during pregnancy are also risk factors. Expectant mothers should attend all check-ups.

Article overview

Frequency of individual heart defects

The frequency of congenital heart defects is relatively high at around one percent of newborns. However, the frequency of individual heart defects is much higher. This is illustrated by the following examples:

A heart defect is usually not necessarily discovered at birth. More often, symptoms only appear later in life. Only in some cases are the symptoms so severe that the heart defect is detected before birth or within the first few weeks of life. In these cases, the pulmonary artery and pulmonary valve are usually affected.

Some heart defects in detail

The spectrum of known heart defects ranges from less problematic to life-threatening. In general, the more serious a heart defect is, the more likely it is that heart surgery will be the only remaining therapeutic measure.

If more severe heart defects are treated in infancy, the children can then develop normally.

Anatomie des Herzens
For a better understanding: the anatomy of the heart © designua | AdobeStock

Pulmonary atresia

In this type of heart defect, the three valves of the pulmonary valve do not open or are not formed.

As a result, blood cannot flow from the right ventricle into the pulmonary artery. The blood therefore does not flow through the lungs and cannot be enriched with oxygen.

Pulmonary valve stenosis

Pulmonary valve stenosis is also a defect in the valve leaflets of the pulmonary valve. This only opens incompletely during cardiac activity, which narrows the outflow path of the blood.

This narrowing means that the heart has to build up a higher pressure in order to pump blood into the lungs.

Defects in the cardiac septum

Children are often born with a heart defect in the area of the cardiac septum. This septum separates the left ventricle and the left atrium from the right ventricle and atrium of the heart.

The right ventricle and right atrium contain deoxygenated blood that returns to the heart from the systemic circulation. The left ventricle and left atrium, on the other hand, contain oxygen-rich blood from the pulmonary circulation.

If there is a defect in the cardiac septum, oxygen-poor blood can mix with oxygen-rich blood. The result is mixed blood with a lower oxygen content than necessary.

If the cardiac septum is permeable in the area of the atria, this is referred to as an atrial septal defect. As there is excess pressure in the left atrium, oxygen-rich blood now enters the right atrium.

A natural atrial septal defect is the so-called ductus botalli. This is a natural opening in the atrial septum, which usually closes after birth. It primarily serves as a short-circuit defect to bypass the not yet functional pulmonary circulation.

In a ventricular septal defect, the cardiac septum between the two chambers is permeable.

Symptoms vary depending on the size of the septal defect. If the hole is very large, very deoxygenated mixed blood is produced and the body's oxygen supply suffers.

This can be recognized by a change in the rather bluish color of the skin and the child's increasingly reduced resilience. In these cases, only pediatric heart surgery can help to close the defect. However, smaller defects usually remain undetected for years due to their less severe symptoms.

Heart defects are very often detected via

are detected. The doctor will discuss the best course of action with you as the parents of the affected child. Furthermore, not every heart defect requires surgery.

EKG Elektrokardiogramm
The heart rhythm can be checked using an ECG © jimmyan8511 | AdobeStock

It is often sufficient to check smaller interventricular septal defects regularly using an ECG. In infancy or childhood, many holes in the cardiac septum between the right and left side of the heart close all by themselves. Fortunately, surgery is therefore usually unnecessary.

However, if a hole remains later and such a heart defect is not treated, there is sometimes a risk of serious complications. These include, for example

Transposition of the great vessels of the heart

In 5 % of all cases, a very serious congenital heart defect occurs - the so-called transposition of the great vessels of the heart. This refers to an interchanged connection of the aorta and pulmonary artery to the heart chambers.

This means that the heart pumps deoxygenated blood into the circulatory system instead of oxygen-rich blood. This heart defect is fatal. Immediate postnatal surgery is necessary to save the newborn.

Tetralogy of Fallot

In tetralogy of Fallot, 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.

This clinical picture of a congenital heart defect is very complex.

Due to the excess pressure in the right ventricle as a result of pulmonary valve stenosis, blood is constantly forced through the ventricular septal defect. The resulting low-oxygen mixed blood leads to the development of oxygen deficiency symptoms in the systemic circulation.

In addition, an aortic anomaly occurs in tetralogy of Fallot, which can impair the transportation of blood from the heart.

Congenital heart defects in adolescents

During the growth phase, combinations of an already corrected heart defect and newly acquired heart defects can occur. It is therefore possible that patients who have already undergone surgery may have to undergo heart surgery again at a later date.

Minimally invasive procedures reduce the risk of scarring. Today, atrial septal surgery can generally be performed using minimally invasive techniques. The reduced scarring reduces the likelihood of subsequent complications. The physical and mental strain is also lower.

Symptoms of congenital heart defects

A whole range of symptoms can indicate a congenital heart defect. The pediatrician is often the first port of call when these symptoms occur.

The main reason for the appearance of symptoms is the increasing lack of oxygen. This can be seen in the cyanosis (blue coloration) of

  • skin,
  • lips and
  • nail beds.

Other symptoms may also occur, such as

  • accelerated or labored breathing,
  • listlessness,
  • pale, clammy skin,
  • shortness of breath,
  • tiredness,
  • palpitations and
  • swelling of the feet, ankles or abdomen

may occur.

Diagnosis of congenital heart defects

Thanks to improved modern diagnostic methods, many heart defects can now be detected within the first year of life.

Prenatal diagnostics now also make it possible to identify serious heart defects prenatally, i.e. before birth. However, prenatal diagnostics are not intended to plan an early termination of pregnancy in the event of a severe congenital heart defect. Rather, the aim is to provide the best possible care for the newborn after birth.

In the case of constrictions or defective heart valves, the blood flow becomes turbulent or short circuits occur. This causes loud heart noises, which can be easily detected with a stethoscope. Depending on the type of murmur, its origin can be determined.

The electrocardiogram (ECG) is also very important for the diagnosis of congenital heart defects. By recording the cardiac currents, the doctor can draw conclusions about the size and position of the heart and, above all, cardiac arrhythmias.

However, themost important diagnostic examination method today is echocardiography(ultrasound of the heart). It shows the heart in all its structures very precisely. This also makes almost all heart defects visible. In addition, heart function can be assessed and the condition of the individual heart components can be evaluated.

This examination method is used whenever a congenital heart defect is suspected. It is completely painless and risk-free and is therefore also used as a very gentle procedure in children.

Further, usually much more specialized examinations are used depending on the type of suspicion. This also includes the use of a cardiac catheter. Other imaging procedures include magnetic resonance imaging (MRI) and computer tomography (CT).

Severe heart defects in the operating theater

In the case of very severe heart defects, a simple corrective operation is often impossible. In such cases, the operation must be performed in several stages. The top priority is to ensure blood flow to the body and lungs.

Doctors usually create artificial connections to produce mixed blood. This guarantees at least a minimal oxygen supply.

Under certain circumstances, the heart can be bypassed. In this way, deoxygenated blood can be fed directly from the large body veins into the pulmonary artery, where it is enriched with oxygen. This relief of the heart may improve blood flow and reduce cardiac arrhythmia.

A particular challenge among congenital heart defects is the transposition of the large vessels of the heart. In these children, the artery that branches off to the lungs is located at the site of the aorta and the aorta in turn branches off into the lungs. This makes it practically impossible for oxygen-rich blood to reach the body.

Without the saving operation, these newborns die very shortly after birth. In the first few days of life, oxygen is only exchanged via so-called postnatal shunt openings. Surgery must therefore be performed within a few days of birth.

During this operation, the large aorta and the pulmonary artery are detached from the heart, replaced and reconnected to the heart in their correct position.

Is there any prevention against congenital heart defects?

There are actually 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.

  • Girls should be vaccinated against rubella so that they do not contract the disease during a later pregnancy.
  • You should consult a doctor before taking any medication during pregnancy. The most risky preparations are over-the-counter medicines and vitamin tablets.
  • Alcohol and nicotine are forbidden during and even after pregnancy (breastfeeding).

It is also particularly important for expectant mothers to attend all prenatal check-ups. During these regular inspections, a congenital heart defect can be detected at an early stage. For this purpose, the baby's heart is examined more closely using ultrasound.

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