Congenital Heart Disease (CHD) refers to structural defects in the heart present at birth. These defects affect the heart's walls, valves, arteries, or veins, disrupting blood flow. CHD varies in severity, from mild conditions requiring no treatment to complex defects needing surgical intervention. It is the most common type of birth defect, affecting about 1% of newborns, and can cause symptoms like rapid breathing, poor growth, and cyanosis. Early diagnosis and management are crucial for improving outcomes and quality of life.
Congenital Heart Disease is the most common type of heart disease in children. About 1% of children are born with a birth defect of the heart. Some defects cause symptoms and problems within a few days after a child’s birth. Other defects are much less serious and may only be detected later in childhood.
Some birth defects of the heart may be associated with birth defects of other systems of the body. Sometimes a group of particular birth defects happen together in a child and this is called a “syndrome”. This comes from the Greek words that mean “running together”. Some birth defects are related to genetic conditions. Other birth defects may rarely run in a family. Most birth defects of the heart have no known cause or prevention. Unless told otherwise by the pediatric cardiologist, the parents of a child with a birth defect of the heart should be reassured that there is nothing that could have been done before the baby’s birth to cause or to prevent the birth defect.
Diagnosing congenital heart disease (CHD) in a child typically involves a combination of prenatal screening, physical examination after birth, and diagnostic tests such as echocardiography, which uses sound waves to create images of the heart's structure and function. Additional tests may include electrocardiography (ECG) to measure heart rhythms, chest X-rays, and cardiac catheterization for more detailed evaluation. Early detection allows for prompt medical intervention and management to optimize the child's health outcomes.
The child’s pediatrician or family physician will make a referral if the child has particular symptoms or has findings on a physical examination that may be due to heart disease.
A birth defect is diagnosed by a thorough cardiac history and examination, and with additional tests done under the direction of a pediatric cardiologist.
The child’s pediatrician or family physician will make a referral if the child has particular symptoms or has findings on a physical examination that may be due to heart disease.
If the heart condition is severe, it may cause symptoms such as breathing or feeding difficulty, bluish or pale discoloration, or limited activity. If it is less severe, it will not cause any symptoms, but it may cause a murmur that will be heard on routine examination by the child’s physician. Some older children and teenagers may experience chest pain, dizziness, fainting, or palpitations—a fluttering feeling of the heart. These symptoms may be related to birth defects of the heart or other heart conditions, but in most cases, they are not due to a serious heart problem and will go away with time. Nevertheless, referral to a pediatric cardiologist may be very helpful and reassuring when the symptoms are very distressing for the child and the child’s family, or when the child’s physician has particular concerns related to the child’s heart.
The American Heart Association website has further information about the most common birth defects of the heart. The information was developed by a group of pediatric cardiologists in conjunction with a national support group of parents of children with CONGENITAL HEART DISEASE: Click here for more information.
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