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Congenital Defects

Congenital heart defects (CHDs) are the most common type of birth defect. CHDs are present at birth and can affect the structure of a baby’s heart and the way it works. They can affect how blood flows through the heart and out to the rest of the body. They also range from mild (such as a small hole in the heart) to severe (such as missing or poorly formed parts of the heart).

About one in four babies born with a heart defect have a critical CHD. Babies with a critical CHD need surgery or other procedures in the first year of life.

Listed below are different types of CHDs:

  • Atrial septal defect.

  • Coarctation of the aorta.

  • Ebstein anomaly.

  • Tetralogy of Fallot.

  • Tricuspid atresia.

  • Pulmonary atresia.

  • Single ventricle.

  • Truncus arteriosus.

  • Interrupted aortic arch.

  • Ventricular septal defect.

  • Double-outlet right ventricle.

  • Hypoplastic left heart syndrome.

  • Atrioventricular septal defect.

  • Transposition of the great arteries.

  • Total anomalous pulmonary venous return.

What happens once you have congenital defects?

Signs and symptoms for CHDs depend on the type and severity of the particular defect. Some defects might have few or no signs or symptoms. Others might cause a baby to have the following symptoms:

  • Sleepiness.

  • Tiredness when feeding.

  • Blue-tinted nails or lips.

  • Fast or troubled breathing.

What causes congenital defects?

The causes of CHDs among most babies are unknown. Some babies have heart defects because of changes in their individual genes or chromosomes.

CHDs also are thought to be caused by a combination of genes and other factors, such as things in the environment or the mother’s diet, health conditions or medication use during pregnancy. For example, certain conditions a mother has, like pre-existing diabetes or obesity, have been linked to heart defects in the baby. Smoking during pregnancy, as well as taking certain medications, have also been linked to heart defects.

What types of tests are used to diagnosis congenital defects?

Some CHDs may be diagnosed during pregnancy using a special type of ultrasound called a fetal echocardiogram, which creates ultrasound pictures of the developing baby's heart.

However, some CHDs are not detected until after birth or later in life, during childhood or adulthood. If a healthcare provider suspects a CHD may be present, the baby can get several tests (such as an echocardiogram) to confirm the diagnosis.

What types of treatments and procedures are used to treat congenital defects?

Treatment for CHDs depends on the type and severity of the defect present. Some affected infants and children might need one or more surgeries to repair the heart or blood vessels.

Some can be treated without surgery using a procedure called cardiac catheterization. A long tube, called a catheter, is threaded through the blood vessels into the heart, where a doctor can take measurements and pictures, do tests, or repair the problem.

Sometimes the heart defect can’t be fully repaired, but these procedures can improve blood flow and how the heart works. Even if their heart defect has been repaired, many people with CHDs are not cured.

What can I do to support my health when I have congenital defects?

As medical care and treatment have advanced, many children with CHDs are now living into adulthood. It is estimated that more than two million individuals in the United States are living with CHDs.

Many people with CHDs lead independent lives with little or no difficulty. Others might develop a disability over time. People with CHDs can develop other health problems, depending on their specific heart defect, the number of heart defects they have, and their heart defect severity.

For example, other health problems that might develop include irregular heartbeat (arrhythmias), infection in the heart muscle (endocarditis), or weakness in the heart (cardiomyopathy). People with CHDs need routine checkups with a cardiologist (heart doctor) to stay as healthy as possible. They also might need further operations after initial childhood surgeries.

People with CHDs need to regularly visit their doctor and discuss their health, including their specific heart condition.

Why choose Presbyterian for congenital defects treatment?

Presbyterian’s Pediatric and Congenital Cardiology team has many different options to help you manage your or your child’s heart condition. The team performs various diagnostic tests and procedures to help form an accurate diagnosis and create individualized treatment plans. Depending on the type of heart condition your child has and its underlying cause, the team can recommend a wide variety of treatment options. Our pediatric cardiologists, pediatric interventional cardiologists, and pediatric cardiovascular surgeons work closely together for cases in which cardiac repair or surgery is the best treatment option.