Congenital heart defect

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at April 26, 2016
StartDiseasesCongenital heart defect

Congenital heart defects are structural abnormalities of the heart that are present at birth. These defects alter the way blood flows through the heart and the rest of the body. Defects can range from simple to complex and life-threatening.


Definition & Facts

In the United States, approximately 35,000 babies are born with a congenital heart defect each year. That amounts to one out of every 1,000 births, making congenital heart defects the most common form of birth defect. Congenital heart defects involve malformations to the structures of the heart, including the heart walls, the heart valves, and the arteries and veins leading to and from the heart.

Common simple heart defects include openings in the septum dividing the chambers of the heart and a narrowing of the heart valves. The most common complex heart defect is called tetralogy of Fallot, which is a combination of four different heart defects.

Symptoms & Complaints

Simple heart defects may cause few, if any, symptoms. Complex defects can vary in symptoms depending on the type and severity of the defect. Common symptoms include:

Babies may fail to grow and thrive since they can tire easily while feeding. Older children may have difficulty engaging in physical activities due to fatigue and shortness of breath. Since severe heart defects cause the heart to work harder, they can result in heart failure. Symptoms of heart failure include:

Chest pain and discomfort are not normally associated with congenital heart defects.


The exact cause of congenital heart defects remains unclear. Some researchers suggest that heredity may be a component in some heart defects. Individuals with a congenital heart defect may be more likely to have a child with the condition; however, it is rare to see more than one child born with a congenital heart defect in a particular family. Individuals born with certain genetic disorders, including Down syndrome and Turner syndrome, often have congenital heart defects.

Smoking has been linked to septal defects and other types of heart defects. In rare cases, a congenital defect may be the result of the mother experiencing an infection or some other type of environmental exposure during pregnancy. The Pediatric Cardiac Genomic Consortium is currently conducting clinical research to identify the genetic causes of congenital heart defects.

Diagnosis & Tests

Serious, complex heart defects are often diagnosed in utero or shortly after birth. Minor defects may not be diagnosed until the child is older. The diagnosis of minor defects often occurs incidentally during physical examinations or other tests. Upon physical exam, a child with a severe heart defect may exhibit abnormal heart sounds, cyanosis, delayed growth, rapid breathing, or signs of heart failure.

An echocardiogram is a non-invasive test that uses sound waves to create a visual image of the structures of the heart. A fetal echo can be performed between the 18th and 22nd weeks of pregnancy to identify heart defects prior to birth.

An EKG can be used to measure the timing and strength of the heart’s electrical activity. It can also help the doctor determine if one of the chambers of the heart is enlarged. X-rays can detect enlarged heart chambers and fluid buildup in the lungs, which can indicate heart failure. Pulse oximetry, which uses a small sensor attached to a toe or finger, can detect if the blood is being sufficiently oxygenated.

A cardiac catheterization involves inserting a flexible tube into a vein and threading it to the heart. Dye is then injected into the catheter. This allows the doctor to see how the blood is flowing through the heart and various vessels. Certain defects can even be corrected using cardiac catheterization.

Treatment & Therapy

The treatment for congenital heart defects depends on the type and severity of the defect. Most simple defects either require no treatment or can be easily corrected. Individuals with complex defects may require multiple surgeries and life-long medical care. Catheter procedures are the preferred method of correcting simple defects, including atrial septal defects and pulmonary valve stenosis. To repair an atrial septal defect, the doctor will use the catheter to insert a device into the heart that will close the hole between the atria.

In the case of pulmonary valve stenosis, the catheter is used to insert a balloon that is inflated to widen the narrowed valve. If the defect is too complicated to correct using a catheter, the doctor may have to turn to open-heart surgery. Surgery is most often used to close holes in the heart, widen arteries and heart valves, replace or repair valves, or to correct issues with the placement of blood vessels near the heart.

In rare instances, a child may have a congenital heart defect that is too complex to be repaired. In this case, the only treatment option is a complete heart transplant. Advances in medical testing and treatment have made it possible for most children with congenital heart defects to survive to adulthood and to live normal, productive lives.

Individuals with heart defects should have regular follow-ups with a cardiologist to ensure they remain as healthy as possible. Children who have difficulty feeding due to heart defects may require special supplements to ensure adequate nutrition. Women with congenital heart defects should consult with an OB/GYN specializing in treating women with the condition in order to fully understand their individual pregnancy risks.

Prevention & Prophylaxis

According to the Centers for Disease Control, women who have diabetes, are obese, or smoke during pregnancy are more likely to have a child with a congenital heart defect. Women can take simple steps before and during pregnancy to improve their chances of having a healthy baby. This includes maintaining a healthy weight, quitting smoking, controlling diabetes and other health conditions, and taking folic acid daily.