How Are Heart Defects in Kids Diagnosed?

Learning that your child has a heart defect can be scary and stressful. But about one in every 100 babies in the U.S. is born with one each year. Fortunately, with early detection and proper care, children with heart defects can most often live normal, healthy lives.

Learn more about congenital heart defects in infants and children, including how doctors diagnose and treat them.

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Common Heart Defects in Newborns

Congenital heart defects are the kind you’re born with. They affect the heart’s structure and how it works. It might surprise you to learn that congenital heart defects are the most common type of birth defect in newborns.

Most of the time, doctors aren’t sure about the causes of congenital heart defects in newborns, but they might happen because of:

  • A family history of congenital heart defects.
  • Changes in your baby’s genes that affect how their heart forms before they’re born.
  • Certain medications that you take during pregnancy.
  • A mother’s preexisting health conditions, like diabetes.
  • Smoking or abusing alcohol or drugs during pregnancy.
  • Having rubella or other infections during your pregnancy.

Heart defects range from mild ones that you might not find out about until your child is older, to more critical ones. Critical congenital heart defects often need fast treatment. These are some common heart defects in newborns:

  • Atrial or Ventricular Septal Defect (ASD and VSD). This is when there is a hole in the wall (septum) between the heart’s chambers. The hole might close on its own. But if it doesn’t, surgery or a procedure can repair it.
  • Atrioventricular Septal Defect (AVSD). This heart defect causes multiple holes between the chambers of the right and left sides of the heart. Also, the valves that control blood flow between these chambers may not form correctly. Babies need surgery to patch the holes and fix the valves.
  • Coarctation of the Aorta. This causes narrowing of the aorta, which blocks normal blood flow to the body. A doctor can widen the artery with a minimally invasive balloon angioplasty procedure in older children but younger children might need surgery.
  • Tetralogy of Fallot. This is a congenital birth defect in which the heart doesn’t form correctly, and blood can’t flow through normally. It causes a hole between the lower chambers (ventricles), a narrowed pulmonary valve, and a thick ventricular wall. This birth defect requires surgery after birth and sometimes needs intervention within days.

Diagnosing Heart Defects in Infants and Children

Because heart defects are among the most common birth defects, obstetricians check a baby’s heart while they’re in the womb. A doctor can often spot a heart defect at a 20-week ultrasound. They can refer to cardiology for further testing with a fetal echocardiogram if they suspect one.

A fetal echocardiogram test is similar to a regular prenatal ultrasound but focuses solely on the heart. A technician places a small probe called a transducer on your abdomen. The transducer sends out sound waves that bounce, or echo, off your baby’s heart structures.

The computer turns these echoes into an image of the heart walls and valves. There are several types of fetal echocardiograms:

  • 2D echocardiography. This allows a doctor to see your baby’s heart’s structures and real-time motion.
  • Doppler echocardiography. This procedure can detect abnormal blood flow within the heart. It might indicate an opening between the chambers of the heart or problems with the heart’s valves or walls.
  • Color Doppler. Different colors show the direction of blood flow to help interpret Doppler images.

Having a diagnosis before your baby is born allows you and your doctor to plan for a safe delivery and surgery if needed, shortly after delivery. But not all fetal heart defects are seen on ultrasound. Some are only minor defects, and a doctor might not diagnose them until after birth.

As part of their newborn screening, babies also have a quick and painless test called pulse oximetry before leaving the hospital. This test estimates the amount of oxygen in a baby’s blood with sensors placed on their skin. Low oxygen levels in the blood are a possible sign of a heart or lung defect.

Sometimes, a heart defect remains undiagnosed until a child is older. It might cause symptoms like:

  • Blue internal lips and tongue.
  • A hard time breathing and fatigue during exercise.
  • Tiredness when feeding.
  • Chest pain during exercise.
  • Poor growth.
  • Fainting.

A cardiologist can diagnose heart defects based on a history and physical exam but may also use tests such as an electrocardiogram or echocardiogram. An echocardiogram test is very similar to a fetal echocardiogram. It can help diagnose heart defects in infants and older children using sound waves to look at the structure of the heart.

Treating Heart Defects in Infants and Children

Treatments for heart defects vary depending on the type and severity of the defect. Certain congenital heart defects require one or several open-heart surgeries while others need no intervention. A heart surgeon may begin to repair the heart and blood vessels soon after your baby is born if needed.

Sometimes, doctors treat heart defects with minimally invasive cardiac catheterization. With this procedure, a doctor threads a thin tube (catheter) through a blood vessel, usually in the groin, into the heart. Once there, they can repair the heart or blood vessels or improve how they work.

With less serious defects, like a small hole in the septum, your doctor might wait to see if it closes with time.

Even if doctors repair their heart defect, your child will still need routine care from a heart specialist. They’ll continue to monitor their heart and make sure it stays healthy. Sometimes children develop other problems related to their heart defect, such as:

  • An abnormal heartbeat (arrhythmia).
  • An infection in their heart muscle (endocarditis).
  • Weakness in their heart (cardiomyopathy).

You can’t entirely prevent a congenital heart defect but taking care of yourself during pregnancy might reduce your baby’s risk. If you do suspect your child might have a heart problem, make sure you talk to your primary care doctor. With a supportive health care team and proper treatment, children with heart defects can live long, healthy, active lives.

Centers for Disease Control and Prevention. Congenital Heart Defects (CHDs). LINK.

About Pediatrics

From nutrition to illnesses, from athletics to school, children will face many challenges growing up. Parents often will make important health care decisions for them. We hope to help guide both of you in that journey. UPMC Children’s Hospital of Pittsburgh is a national leader in pediatric care, ranking consistently on U.S. News & World Report’s Best Children’s Hospitals Honor Roll. We provide expert treatment for pediatric diseases, along well-child visits, urgent care, and more. With locations across Pennsylvania, Maryland, and West Virginia, you can find world-class care close to home. We also work closely with UPMC Magee-Womens Hospital, a national leader in care for newborns and their mothers. Our goal is to provide the best care for your children, from birth to adulthood and beyond. Visit our website to find a doctor near you.

About Heart and Vascular Institute

The UPMC Heart and Vascular Institute has long been a leader in cardiovascular care, with a rich history in clinical research and innovation. As one of the first heart transplant centers in the country and as the developer of one of the first heart-assist devices, UPMC has contributed to advancing the field of cardiovascular medicine. We strive to provide the most advanced, cutting-edge care for our patients, treating both common and complex conditions. We also offer services that seek to improve the health of our communities, including heart screenings, free clinics, and heart health education. Find an expert near you.