Serious congenital heart defects usually are noticed soon after birth or during the first few months of life. Signs and symptoms could include:
- Pale gray or blue lips, tongue or fingernails (cyanosis)
- Rapid breathing
- Swelling in the legs, belly or areas around the eyes
- Shortness of breath during feedings, leading to poor weight gain
- Less-serious congenital heart defects may not be diagnosed until later in childhood.
Signs and symptoms of congenital heart defects in older children may include:
- Easily becoming short of breath during exercise or activity
- Easily tiring during exercise or activity
- Fainting during exercise or activity
- Swelling in the hands, ankles or feet
Types of congenital heart disease
There are many types of congenital heart disease and they sometimes occur in combination. Some of the more common defects include:
Septal defects – where there’s a hole between 2 of the heart’s chambers (commonly referred to as a “hole in the heart”)
Coarctation of the aorta – where the main large artery of the body, called the aorta, is narrower than normal
Pulmonary valve stenosis – where the pulmonary valve, which controls the flow of blood out of the lower right chamber of the heart to the lungs, is narrower than normal
Transposition of the great arteries – where the pulmonary and aortic valves and the arteries they’re connected to have swapped positions
Underdeveloped heart – where part of the heart doesn’t develop properly making it difficult for it to pump enough blood around the body or lungs
To understand the causes of congenital heart defects, it may be helpful to know how the heart typically works.
The heart is divided into four chambers, two on the right and two on the left. To pump blood throughout the body, the heart uses its left and right sides for different tasks.
The right side of the heart moves blood to the lungs through the lung (pulmonary) arteries. In the lungs, blood picks up oxygen then returns to the heart’s left side through the pulmonary veins. The left side of the heart then pumps the blood through the body’s main artery (aorta) and out to the rest of the body.
Most congenital heart defects result from changes that occur early as the baby’s heart is developing before birth. The exact cause of most congenital heart defects is unknown, but some risk factors have been identified. Risk factors for congenital heart defects include:
Rubella (German measles). Having rubella during pregnancy can cause problems in a baby’s heart development. A blood test done before pregnancy can determine if you’re immune to rubella. A vaccine is available for those who aren’t immune.
Diabetes. Careful control of blood sugar before and during pregnancy can reduce the risk of congenital heart defects in the baby. Diabetes that develops during pregnancy (gestational diabetes) generally doesn’t increase a baby’s risk of heart defects.
Medications. Certain medications taken during pregnancy may cause birth defects, including congenital heart defects. Give your health care provider a complete list of medications you take before trying to become pregnant.
Medications known to increase the risk of congenital heart defects include thalidomide (Thalomid), angiotensin-converting enzyme (ACE) inhibitors, statins, the acne medication isotretinoin (Myorisan, Zenatane, others), some epilepsy drugs and certain anxiety drugs.
Drinking alcohol during pregnancy. Drinking alcohol during pregnancy increases the risk of congenital heart defects.
Smoking. If you smoke, quit. Smoking during pregnancy increases the risk of a congenital heart defect in the baby.
Family history and genetics. Congenital heart defects sometimes run in families (are inherited) and may be associated with a genetic syndrome. Many children with an extra 21st chromosome (Down syndrome) have congenital heart defects. A missing piece (deletion) of genetic material on chromosome 22 also causes heart defects.
Treating congenital heart disease
Treatment for congenital heart disease usually depends on the defect you or your child has Mild defects, such as holes in the heart, often don’t need to be treated, as they may improve on their own and may not cause any further problems.
Surgery or interventional procedures are usually required if the defect is significant and causing problems. Modern surgical techniques can often restore most or all of the heart’s normal function.
However, people with congenital heart disease often need treatment throughout their life and therefore require specialist review during childhood and adulthood. This is because people with complex heart problems can develop further problems with their heart rhythm or valves over time.
Most surgery and interventional procedures aren’t considered to be a cure. The affected person’s ability to exercise may be limited and they may need to take extra steps to protect themselves from getting infections.
It’s important that a person with heart disease and their parents or carers discuss these issues with their specialist medical team.
Disclaimer: This content including advice provides generic information only. It is in no way a substitute for a qualified medical opinion. Always consult a specialist or your own doctor for more information on the topic.