Types of congenital heart disease 

Congenital heart disease refers to a range of possible heart defects.

The following defects are described below:

Aortic valve stenosis

Aortic valve stenosis is an uncommon and serious type of congenital heart defect. It accounts for around 5% of cases of congenital heart disease.

In aortic valve stenosis, the aortic valve that controls the flow of blood out of the main pumping chamber of the heart (the left ventricle) to the body's main artery (the aorta) is narrowed. This affects the flow of oxygen-rich blood away from the heart, towards the rest of the body, and may result in the left ventricle muscle thickening because the pump has to work harder.

Coarctation of the aorta

Coarctation of the aorta (CoA) is where the main artery (the aorta) has a narrowing, which means that less blood can flow through it.

CoA accounts for around 10% of cases of congenital heart disease. It can occur by itself or in combination with other types of heart defects  most commonly a ventricular septal defect or a type of defect known as a patent ductus arteriosus (see below).

In around half of all cases, the narrowing can be severe and will require treatment shortly after birth.

Ebstein's anomaly

Ebstein's anomaly is where the valve on the right side of the heart (the tricuspid valve), which separates the right atrium and right ventricle, doesn't develop properly. This means blood can flow the wrong way within the heart, and the right ventricle may be smaller and less effective than normal.

Ebstein's anomaly can occur on its own, but it often occurs with an atrial septal defect (see below). It's estimated that Ebstein's anomaly accounts for less than 1% of congenital heart disease cases.

Patent ductus arteriosus

Patent ductus arteriosus (PDA) is a rare type of congenital heart disease, affecting around 5 in every 100,000 babies.

As a baby develops in the womb, a blood vessel called the ductus arteriosus connects the pulmonary artery directly to the aorta. The ductus arteriosus diverts blood away from the lung (which isn't working normally before birth) to the aorta.

A patent ductus arteriosus is where this connection doesn't close after birth as it's supposed to. This means that extra blood is pumped into the lungs, forcing the heart and lungs to work harder.

Pulmonary valve stenosis

Pulmonary valve stenosis is a defect where the pulmonary valve, which controls the flow of blood out of the right heart pumping chamber (the right ventricle) to the lungs, is narrower than normal. This means the right heart pump has to work harder to push blood through the narrowed valve to get to the lungs.

Pulmonary valve stenosis accounts for around 10% of cases of congenital heart disease.

Septal defects

A septal defect is where there's an abnormality in the wall (septum) between the main chambers of the heart. The two main types of septal defect are outlined below.

Atrial septal defects

An atrial septal defect (ASD) is where there's a hole between the two collecting chambers of the heart (the left and right atria). It's a common type of congenital heart defect that affects about 2 in every 1,000 babies.

When there's an ASD, extra blood flows through the defect into the right side of the heart, causing it to stretch and enlarge.

Ventricular septal defects

A ventricular septal defect (VSD) is also a common form of congenital heart disease, affecting around 2 in every 1,000 babies. It occurs when there's a hole between the 2 pumping chambers of the heart (the left and right ventricles).

This means that extra blood flows through the hole from the left to the right ventricle, due to the pressure difference between them. The extra blood goes to the lungs, causing high pressure in the lungs and a stretch on the left-sided pumping chamber. Small holes often eventually close by themselves, but larger holes need to be closed using surgery.

Single ventricle defects

A single ventricle defect is where only one of the pumping chambers (ventricles) develops properly. Without treatment, these defects can be fatal within a few weeks of birth. Nowadays, however, complex heart operations can be carried out which improve longer-term survival, but may leave a person with symptoms and a shortened life span.

Two of the more common single ventricle defects are described below.

Hypoplastic left heart syndrome

Hypoplastic left heart syndrome (HLHS) is a rare type of congenital heart disease, where the left side of the heart doesn't develop properly and is too small. This results in not enough oxygenated blood getting through to the body.

Tricuspid atresia

Tricuspid atresia is where the tricuspid heart valve hasn't formed properly. The tricuspid valve separates the right-sided collecting chamber (atrium) and pumping chamber (ventricle). As there's no blood flow into the right pumping chamber, the pump doesn't develop and is too small. 

It's estimated that 10 babies in every 100,000 are affected by tricuspid atresia.

Tetralogy of Fallot

Tetralogy of Fallot is a combination of several defects, affecting about 3 in every 10,000 babies.

The defects making up tetralogy of Fallot are:

  • ventricular septal defect  a hole between the left and right ventricle
  • pulmonary stenosis  narrowing of the pulmonary valve
  • right ventricular hypertrophy  where the muscle of the right ventricle is thickened
  • displaced aorta  where the aorta isn't in its usual position coming out of the heart

As a result of this combination of defects, oxygenated and non-oxygenated blood mixes, causing the overall amount of oxygen in the blood to be lower than normal. This may cause the baby to appear blue (known as cyanosis) at times.

Total (or partial) anomalous pulmonary venous connection (TAPVC)

TAPVC occurs when the four veins that take oxygenated blood from the lungs to the left side of the heart aren't connected in the normal way. Instead, they connect to the right side of the heart.

Sometimes, only some of the four veins are connected abnormally, which is known as partial anomalous pulmonary venous connection and may be associated with an atrial septal defect. More rarely, the veins are also narrowed, which can be fatal within a month after birth.

TAPVC is an uncommon type of congenital heart disease, affecting around 7 in every 100,000 babies.

Transposition of the great arteries

Transposition of the great arteries is relatively common, accounting for around 5% of cases of congenital heart disease.

It's where the pulmonary artery (lung artery) and main body artery (the aorta) are "swapped over" and are connected to the wrong pumping chamber. This leads to blood that's low in oxygen being pumped around the body.

Truncus arteriosus

Truncus arteriosus is an uncommon type of congenital heart disease, affecting around 5 in every 100,000 babies.

It's where the two main arteries (pulmonary artery and aorta) don't develop properly and remain as a single vessel. This results in too much blood flowing to the lungs which, over time, can cause breathing difficulties and damage the blood vessels inside the lungs.

Truncus arteriosus is usually fatal within a year of birth, if it isn't treated.

Page last reviewed: 05/06/2015

Next review due: 31/12/2017