What are congenital heart defects? An expert explains

I'm Dr. Jonathan Johnson, a pediatric cardiologist at Mayo Clinic. In this video, we'll cover the basics of congenital heart disease in children. Whether you're looking for answers about your own child's health or that of someone you love, we're here to provide you with the best information available.

Congenital heart disease, also called a defect, refers to one or more problems with the heart structure that are present at birth. These abnormalities occur when the heart or blood vessels don't form correctly in utero. At least eight out of every 1000 infants born in the US each year have a heart defect. That's 40,000 infants every year in this country. Congenital means that the problem was existing or present at birth. But sometimes defects can be identified even before birth. Sometimes they don't show signs until children are older or even into adulthood. Congenital heart disease can involve abnormalities in any of these structures, including the arteries, valves, chambers or the wall separating the chambers of the heart. These defects, depending on the severity and type, can affect the proper flow of blood and oxygen to the lungs and the body. There may be associated heart rhythm problems or the defects may cause the heart to work harder than it should. Some, like a small hole in the heart, can be very simple and cause very few problems with the child's development and health. But other cases, like when babies are born with parts of their hearts missing, require immediate care.

Some congenital heart defects cause no signs or symptoms. Sometimes indications may only appear later in life. And symptoms can also return years after treatments. Symptoms for more serious forms of congenital heart defects may become evident in the first few days or months after birth. You may notice a pale gray or blue skin color called cyanosis. Babies use a lot of calories and effort when they're eating. Thus, eating often brings out symptoms of heart failure, such as rapid breathing or shortness of breath. Poor weight gain caused by the heart defect or by difficulty feeding due to symptoms while feeding, can be a sign of congenital heart disease. Some less serious conditions may not be diagnosed until later in childhood. Signs in older children can include becoming easily short of breath, easily tiring, or fainting during exercise or activity. They may also have swelling in the hands, the ankles and the feet. Your pediatrician may also hear an abnormal heartbeat or abnormal heart sound called a murmur during a checkup. Most of these murmurs are actually innocent, but it's important to check them out.

Some congenital heart defects can be seen on an ultrasound while the baby is still in the womb. In certain extreme cases, treatment may be advised before a baby is even born. This may be done to correct the problem or reduce complications as the child continues to develop. In order to determine if your child has congenital heart disease, your doctor will do a physical exam and listen to their heart with a stethoscope. They'll ask about the child's symptoms and their medical history and any history of heart problems in their families. Then, if needed, they may advise other tests. A pulse oximetry measurement may be performed to estimate the amount of oxygen in the blood. This is a simple test done with a finger sensor. An electrocardiogram, or ECG, can be conducted to record the electrical signals in their heart. This is non-invasive and painless. Your doctor might want to schedule an echocardiogram, which uses sound waves to create an image of the heart. An echocardiogram allows the doctor to see the heart muscle and valves in motion and diagnoses most forms of congenital heart disease. They might be given a chest x-ray, which could reveal issues in the size and the shape of the heart. In some conditions, your doctor may order a cardiac MRI, which uses large magnets to take images of the heart in motion. Your doctor may ask for a cardiac catheterization. For this, a catheter or a small plastic tube placed via a needle into an artery or vein in your leg, arm or neck, and advanced into the different chambers of your heart. This way, doctors can check the blood flow and the pressure inside the heart chambers themselves. Today, doctors use cardiac catheterization methods to close certain kinds of holes in the heart or to place expandable valves.

If your child has congenital heart disease, they will need care throughout their life. However, not every child with congenital heart disease requires active treatment and the defect may pose no harm to their health. Some defects, like a small hole in the heart, may resolve on their own. Some conditions can be treated with medications. These can include blood pressure medications, heart rhythm medications, and medications to help you get rid of excess water in your body. More serious forms of congenital heart diseases may require surgery or other procedures. This may be open-heart or a less invasive type of surgery. And, in cases where repairs aren't an option, a heart transplant may be needed. Doctors try to limit these interventions as much as possible and only recommend them if absolutely needed.

It is important to familiarize yourself with your child's condition. Keep an eye out for worsening or new symptoms, and be aware of any lifestyle adjustments recommended by your cardiologist. As patients get older, it is crucial that they continue care with an adult-focused cardiologist with training in congenital heart disease. Finding out your child has a heart defect is scary and can be for them too, if they're old enough to understand it. But no matter when the diagnosis is made, progress in research and treatment have greatly increased not only survival rates, but overall quality of life for patients living with congenital heart disease. There's a great deal of hope for children with congenital heart disease. And we expect all to have happy childhoods that lead to long, full, productive lives. If you want to learn even more about congenital heart disease in children, watch our other related videos or visit mayoclinic.org. We wish you well.