Congenital septal heart defects

Septal heart defects are defects of the heart affecting the septum, the wall separating the left and right sides of the heart. Septal defects sometimes occur in conjunction with other serious heart defects. 

The human heart has two halves, with each half consisting of an upper and a lower chamber. The septum is the wall that divides the two halves, preventing the oxygenated and deoxygenated blood in the two circulatory pathways from mixing.

What types of septal heart defects are there?

Congenital septal defects of the heart include:

• Ventricular septal defect, in which there is a hole in the septum between the two lower chambers (ventricles) of the heart
• Atrial septal defect, in which the septum between the two upper chambers (atria) of the heart is not fully closed
• Atrioventricular septal defect, which is a combination of the two defects listed above, occurring in combination with heart valve defects

What is the life expectancy for children with a septal heart defect? 

Children with a ventricular or atrial septal defect whose defect is repaired as soon as possible have a normal life expectancy with virtually no impact on daily life. People with a repaired atrioventricular septal defect also live to an advanced age. 

The symptoms and signs differ depending on the type, severity, and form of septal heart defect. If the hole in the heart wall is small, infants very often have no symptoms.

In 75 percent of babies with a small ventricular septal defect, the hole in the muscles of the heart wall closes by itself within the first two years of life.

Babies with a larger ventricular septal defect typically shows signs of heart failure by the age of 3 to 4 weeks. These include:

• rapid breathing and shortness of breath
• failure to thrive – babies feed poorly and fail to put on sufficient weight 
• increased pulse 
• paleness 
• rattling chest sounds and lung infections  

With a ventricular septal defect, the opening may also close by itself within the first few years of life and often causes no symptoms. Doctors frequently don’t pick up on this type of defect until the child is old enough to attend kindergarten or elementary school. These children may have less stamina than their peers.

In the case of an atrioventricular septal defect, where the walls between both the upper and lower chambers are affected, there may also be evidence of heart failure.

In addition, some children with a “hole in the heart” suffer from cyanosis, where the lips, fingernails, skin and mucous membranes become discolored, appearing violet to bluish because the blood contains too little oxygen.

In people born with a septal heart defect, the septum doesn’t develop properly before birth. The precise reasons for this remain largely unclear.

However, atrioventricular septal defects often occur in conjunction with conditions associated with genetic disorders.

Many children with an atrioventricular septal defect have Down’s syndrome.

Conversely, around half of all children with Down’s syndrome have a congenital heart defect, in most cases an atrioventricular septal defect.

In very rare cases, a specific hereditary genetic mutation causes an atrial or atrioventricular septal defect. 

Around 1 percent of all babies are born with a heart defect. Of these:

• 50 percent have a ventricular septal defect 
• 17 percent have an atrial septal defect 
• around 3 percent have an atrioventricular septal defect  

A minor ventricular septal heart defect, i.e., a small hole in the septum, often goes unnoticed and may close by itself in the first few years of life.  

However, a larger hole necessitates an increase in the heart’s pumping power, causing it to become enlarged. In some cases, the blood pressure in the vessels of the lungs is also increased. Excessive blood pressure in the blood vessels of the lungs cause high pressure in the lungs, causing blood to flow in the wrong direction through the hole in the septum.

If left untreated, a large ventricular septal defect can be fatal. Thanks to modern medicine, most people with a ventricular septal defect in Germany today can live a normal life following treatment.

With an atrioventricular septal defect, there is a risk of excessive strain on the heart and excessive pressure in the lungs. This can occur within the first year of a baby’s life.

Some children experience a discoloration of the skin and mucous membranes, as the blood fails to transport sufficient amounts of oxygen. They may also have breathing difficulties.

If the defect remains untreated, life expectancy is significantly reduced.

An atrial septal defect may also close by itself within the first few years of a child’s life without causing any health complications. However, if the defect is more significant and the hole remains open, the heart will need to work harder than normal to pump blood.

This can result in reduced physical stamina, cardiac arrhythmias (irregular heartbeat) and an increased risk of embolisms. 

Some heart defects can be detected as early as week 16 to 18 of pregnancy. Screening is ideally done between week 19 and week 22 as part of prenatal care.

Diagnosis before birth

Doctors use a fetal echocardiogram (“echo”) to screen for heart defects. This consists of a special, high-resolution ultrasound examination, which allows the unborn baby’s heart function, blood flow in the heart, and the surrounding blood vessels to be examined.

Depending on the type and form of heart defect involved, doctors may also use a color Doppler ultrasound to measure the flow of blood between mother and child. This allows doctors to also detect some minor defects.

Diagnosis after birth

Listening to the internal sounds of the heart (“auscultation”) plays an important role alongside echocardiography in diagnosing septal heart defects after birth.

During the first year of a baby’s life, an examination may also be conducted using a heart catheter. This enables better scheduling of surgery to close the defect. This exam involves the doctor inserting a narrow, flexible plastic tube into the heart via a blood vessel.  

Small ventricular or atrial septal defects don’t always require treatment or surgery and often close by themselves.

Children born with an atrioventricular septal defect or a large ventricular septal defect are usually treated with surgery during infancy.

The operation involves sealing the hole in the heart wall using a patch and, in the case of an atrioventricular septal defect, repairing or replacing defective valves.

If children are showing signs of heart failure, medication can relieve the symptoms.

Today, doctors also repair atrial septal defects that are large or are causing symptoms. There are various ways to do this. One method is atrial septal occlusion (closing of the hole in the septum) using a heart catheter. 

If a child has surgery to repair a ventricular or atrial septal defect, they will need to attend regular follow-up examinations in a practice specializing in pediatric cardiology.

The reason for this is that, even after a successful operation, there is a persistent long-term risk of cardiac arrhythmias (irregular heartbeat) and leaking heart valves. 

To offer the best possible support to children with a heart defect – including after surgery – it’s important to include the family as a whole. This is done as part of family-oriented rehabilitation measures.

These focus in particular on:

• ensuring successful treatment
• improving the child’s physical strength and stamina
• strengthening the child’s mental health and resilience

The program also aims to detect sources of stress for parents and siblings at an early stage and to offer appropriate supports.

Family-oriented rehabilitation is offered at specialized centers for children and adolescents up to the age of 17 with heart diseases.

Participation is subject to certain prerequisites. Ask your pediatric cardiologist for advice about this. 

Self-help groups offer parents of children with heart conditions an opportunity to access information and advice and to share personal experiences.  

You can find suitable self-help groups by searching the database on the website of the National Contact and Information Point For Encouraging and Supporting Self-Help Groups (NAKOS). 

Information about everyday supports for people with a heart defect is also provided by herzklick.de – a website operated by the Federal Association for Children with Heart Diseases (Bundesverband Herzkranke Kinder e.V.). 

For more information about the medical care of people with congenital heart defects and for contact details for sources of advice, see the website of the Federal Association for Children with Heart Diseases (Bundesverband Herzkranke Kinder e.V.) and the website of the German Heart Foundation (Deutsche Herzstiftung e.V.).