Congenital heart disease explained

Congenital heart disease: little boy holding pink cardboard heart

Clinical tips on congenital heart disease (types, treatment and management) by Associate Professor Louis Roller, Faculty of Pharmacy and Pharmaceutical Science, Monash University.

Congenital heart disease can manifest itself as a number of different problems affecting the heart. It is the most common type of birth defect (approximately four per 1000 live births).

Congenital heart disease causes more deaths in the first year of life than any other birth defects.

It is often divided into two types.

  1. Cyanotic which may include: Ebstein’s anomaly, hypoplastic left heart, pulmonary atresia, tetralogy of Fallot, total anomalous pulmonary venous return, transposition of the great vessels, tricuspid atresia and truncus arteriosus.
  2. Non-cyanotic: Aortic stenosis, trial septal defect (ASD), atrioventricular canal (endocardial cushion defect), coarctation of the aorta, patent ductus arteriosus (PDA), pulmonic stenosis and ventricular septal defect (VSD)

These problems may occur alone or together.

Most children with congenital heart disease do not have other types of birth defects. However, heart defects can be part of genetic and chromosome syndromes. Some of these syndromes may be passed down through families and may include: DiGeorge syndrome, Down syndrome, Marfan syndrome, Noonan syndrome, Trisomy 13 and Turner syndrome.

Often, no cause for the heart disease can be found. Drugs such as retinoic acid, chemicals and alcohol, and rubella during pregnancy can contribute to some congenital heart problems.

Poorly controlled blood sugar in women who have diabetes during pregnancy has also been linked to a high rate of congenital heart defects.

Symptoms depend on the condition. Although congenital heart disease is present at birth, the symptoms may not appear immediately.

Most congenital heart defects are found during a pregnancy ultrasound. When a defect is found, a paediatric cardiologist, surgeon, and other specialists can be there when the baby is delivered. Having medical care ready at the delivery can mean the difference between life and death for some babies.

Which treatment is used, and how well the baby responds to it, depends on the condition. Many defects need to be followed carefully. Some will heal over time, while others will need to be treated.

Some congenital heart diseases can be treated with medication (for example diuretics, digoxin, vasodilators, antiarrhythmics) alone.

Women who are pregnant should obtain good prenatal care and should:

  • avoid alcohol and party drugs;
  • inform their doctor that they are pregnant before taking any new medicines; and
  • have a blood test early in  pregnancy to ascertain their immune status to rubella.

If not immune, they should avoid any possible exposure to rubella. Rubella vaccination should be given immediately after delivery.

Pregnant women who have diabetes should attempt to get good control over their blood sugar levels.

Treatment is to repair congenital heart defects with catheter procedures or surgery.

Sometimes combined catheter and surgical procedures are used to repair complex heart defects, which may involve several kinds of defects.

The treatment the child receives depends on the type and severity of the heart defect. Other factors include the child’s age, size, and general health.

Some children who have complex congenital heart defects may need several catheter or surgical procedures over a period of years, or they may need to take medicines for years.

Catheter procedures are much easier on patients than surgery; they involve only a needle puncture in the skin where the catheter is inserted into a vein or an artery.

The use of catheter procedures has increased significantly in the past 20 years. They have become the preferred way to repair many simple heart defects, such as atrial septal defect (ASD) and pulmonary valve stenosis (PVS).

Surgery: A child may need open-heart surgery if heart defect cannot be fixed using a catheter procedure. Sometimes one surgery can repair the defect completely. If that’s not possible, the child may need more surgeries over months or years to fix the problem.

Open-heart surgery may be used to: close holes in the heart with stitches or a patch; repair or replace heart valves, widen arteries or openings to heart valves and to repair complex defects, such as problems with the location of blood vessels near the heart or how they are formed.

Rarely, babies are born with multiple defects that are too complex to repair; these babies may need heart transplants.

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