This article outlines what a diagnosis of congenital heart disease will mean for your child. Specific conditions are explained in separate articles.
What is congenital heart disease?
Congenital heart disease refers to many conditions in which a part of the heart has not formed properly, usually this happens very early in pregnancy. Congenital heart disease includes many conditions where there is a problem with the structure of the heart. There may be missing or malformed heart chambers or heart valves or “holes” in parts of the heart.
What causes congenital heart disease?
It is not always clear why congenital heart disease occurs, but there are some known factors that increase the risk. One factor that seems to increase the risk is a history of congenital heart disease in a close relative. The risk increases from about 1 in 100 children in the general population to about 3 in 100 in those with a family history of congenital heart disease. Some genetic syndromes are also known to be associated with an increased incidence of congenital heart disease.
What are the types of congenital heart disease?
There are two ways congenital heart disease affects the heart:
- There is a blockage or slowing of blood flow in the heart or the blood vessels near the heart.
- The blood flow through the heart has an abnormal pattern, forcing the heart to work harder.
There are about 35 known types of congenital heart disease. They range from the simple to the complex. Some are more common than others. There are many varieties and combinations of congenital heart disease. The more common ones include ventricular septal defect, tetralogy of Fallot, transposition of the great arteries, atrioventricular septal defect and coarctation of the aorta.
How common is congenital heart disease?
Congenital heart disease is more common than people think. About 1 out of every 100 babies born each year with congenital heart disease.
What are the symptoms of congenital heart disease?
Congenital heart disease is often divided into two groups: cyanotic and acyanotic.
A cyanotic condition has cyanosis as a symptom. Cyanosis is a bluish discolouration of the skin, caused by the circulation of blood that does not have enough oxygen. Cyanotic conditions include tetralogy of Fallot, truncus arteriosus, transposition of the great arteries and tricuspid atresia. The majority of cyanotic conditions are apparent soon after birth.
In contrast, someone with an acyanotic condition does not show symptoms of cyanosis. Babies and children may have difficulties eating or gaining weight, or breathe faster than normal, or sweat when eating or sleeping. These symptoms are referred to as congestive heart failure. Some children have abnormal blood pressure. Not all children have symptoms, while some have a combination. Sometimes the existence of a heart murmur may indicate a problem. Acyanotic conditions include patent ductus arteriosus, atrial septal defect and ventricular septal defect.
When and how are children diagnosed with congenital heart disease?
Sometimes health-care providers can diagnose congenital heart disease even before the baby is born if it is suspected on a prenatal ultrasound. To confirm a diagnosis, a fetal echocardiogram, which is a special ultrasound focusing on the heart, will be done by a specialist.
Newborn babies are also screened after birth and before discharge from the hospital for certain types of congenital heart disease, called critical congenital heart disease (CCHD). CCHDs are structural differences in babies’ hearts that often require surgery or intervention early in life. CCHD screening is done by measuring the level of oxygen in your baby’s blood using a test called pulse oximetry, where a small plastic probe is wrapped around your baby's hand and foot. This is a “point of care” test, meaning the test is done at the bedside and results are available immediately. CCHD screening is usually performed 24 to 48 hours after birth.
For other types of congenital heart disease, a diagnosis may be made days or months after birth, or even in adulthood, because symptoms may only become obvious over time.
To diagnose congenital heart disease after birth, your child’s health-care provider will usually do a history and physical exam, including blood pressure measurements and pulse oximetry. They may also order tests or refer your child to a pediatric cardiologist.
Some of the tests that help with the diagnosis of congenital heart disease include:
- A chest X-ray will give the health-care team information about your baby’s lungs, as well as the size, shape and position of the heart.
- An electrocardiogram (ECG) shows heartbeat rhythms and can estimate enlargement of the heart chambers.
An echocardiogram (echo) is a special ultrasound that shows the structure of the heart and how well it is working. For some complex types of congenital heart disease, a test called cardiac catheterization or a cardiac MRI may be done as well. Cardiac MRI is a specialized scan that provides information about the structure of the heart and how well it is working. Cardiac catheterization is an invasive test in which tubes called catheters are inserted in the groin at the top of the leg and passed through the blood vessel into the heart. Catheters are used to measure pressures and oxygen levels. A dye may be used to take pictures of the size and shape of blood vessels and chambers in the heart and how the blood flows through the heart and lungs.
How is congenital heart disease treated?
Many congenital heart conditions can be successfully managed, often in early infancy and sometimes even before birth. Treatment depends on which part of the heart is affected. Some children will not need treatment if the effect on blood flow is minor. Others will need medication or intervention such as cardiac catheterization or surgery. Some conditions are not treated right away and some conditions require several procedures in stages to correct it.
What is the outlook for children with congenital heart disease?
The outlook for most children with congenital heart disease is positive. Thanks to early diagnosis and advances in treatment over the last several decades, the overall survival rate to adulthood is about 97%.