Diagnosing Adult Congenital Heart Disease

There are an estimated 1 million adults living with congenital heart disease in the United States. Most people are diagnosed and treated as babies, depending on the type of congenital heart defect. Sometimes, however, heart defects do not cause symptoms in infancy or childhood and are not detected until adolescence or early adulthood.

Children diagnosed with moderate to severe congenital heart disease typically require ongoing monitoring into adulthood. At NYU Langone, our pediatric and adult specialists at the Pediatric Congenital Heart Program collaborate to help people of all ages manage congenital heart conditions.

Long-term complications for adults with congenital heart disease can include problems with the aortic valve, mitral valve, pulmonary valve, or tricuspid valve; heart rhythm disorders; heart failure; stroke; aneurysm; and pulmonary hypertension, a serious form of high pressure in the lungs.

Symptoms in adults vary, depending on the type of congenital heart defect. They may include heart palpitations, bluish skin, dizziness, fainting, shortness of breath, and exercise intolerance, in which you tire easily while exercising.

At NYU Langone, children diagnosed with congenital heart disease are monitored by a heart specialist into adulthood. At routine visits, your doctor listens to your heart for signs of an irregular sound, called a murmur, which can indicate problems with the valves, holes in the heart, or other structural irregularities.

He or she typically uses various tests to determine how to best manage the condition. These tests can also be used to diagnose congenital heart disease in adults who were not diagnosed as children.

Electrocardiogram

An electrocardiogram, or EKG, measures the heart’s electrical activity. It can help determine if you have an arrhythmia, which is a heartbeat that’s irregular, too fast, or too slow.

A technician places small, painless electrodes on your chest, wrists, and ankles to detect your heart’s electrical activity. This information is sent to a computer, which prints a graph that indicates whether your heart is beating normally.

Echocardiogram

An echocardiogram is an ultrasound test that uses high-frequency sound waves to produce detailed images of the heart. It helps your doctor determine the size and shape of the heart and its chambers. It can show how well the heart is pumping blood and can help detect problems with the valves, the aorta, or the pulmonary veins and artery.

During this test, a handheld device called a transducer is placed on your chest. It transmits images of the heart to a computer monitor.

Transesophageal Echocardiogram

In a transesophageal echocardiogram, a technician or your doctor inserts an ultrasound probe through the mouth and into the esophagus. This allows the probe to be positioned close to the heart, thereby providing images of the organ that a traditional echocardiogram cannot provide.

Before the test, you are given a sedative to ensure that you’re comfortable.

MRI Scans

An MRI scan produces computerized, two- and three-dimensional images of the heart using a magnetic field and radio waves. This test helps your doctor assess the heart’s structure and how well its valves and chambers are pumping blood.

CT Scans

A CT scan produces three-dimensional, cross-sectional images of the body using X-rays. The test allows your doctor to identify problems with the pulmonary veins and artery.

A CT scan can help your doctor to detect an aneurysm, which is a potentially life-threatening bulging of a blood vessel wall that can occur in people with some types of congenital heart defects. 

Stress Tests

A stress test provides information about the functioning of your heart and arteries. It can help determine if blood in the heart is flowing improperly. If exercise triggers rapid and irregular heart rhythms or causes unusual fatigue or shortness of breath, your doctor may perform a stress test to help assess your ability to tolerate exercise.

During a stress test, you exercise or take medication to cause your heart to beat faster. Your doctor monitors your heart for changes that may not occur while you are resting.

There are several types of stress tests.

Cardiopulmonary Exercise Stress Test

If you are able to exercise, your doctor may use a cardiopulmonary exercise stress test to determine how the heart and lungs respond to exercise. This test can help your doctor to determine the causes of shortness of breath and whether your heart is receiving enough blood and oxygen.

Before the test, your blood pressure, breathing rate, and heart rate are recorded. Next, you walk on a treadmill while wearing nose clips and breathing through a mouthpiece.

Small electrodes are placed on your chest and wrists to allow your doctor to perform an EKG. These electrodes send information about your heart’s rate and rhythm to a machine. Your blood pressure is measured via a blood pressure cuff that is wrapped around your upper arm.

Nuclear Stress Test

In a nuclear stress test, a small amount of radioactive tracer is injected into a vein in the arm. Next, you lie down on a table while your heart rate is measured through small, painless electrodes that are placed on your chest, wrists, and ankles.

A device called a gamma camera is positioned above your body. It detects radiation released by the tracer as it travels through your blood and into your heart, creating images of your heart at rest.

Next, you have an exercise stress test or a pharmacological stress test—in which medications are given to raise the heart rate or open the blood vessels. Then, you lie under the gamma camera, which produces postexercise images that are compared to those taken before exercise.

Echo Stress Test

In an echo stress test, your doctor uses an echocardiogram to create images of the heart before and after you exercise on a treadmill. Your doctor then compares results of the echocardiograms to identify areas where blood isn’t flowing properly after the heart rate is increased. The doctor uses an EKG to monitor heart rate and rhythm during the test.

Advanced Cardiac Ambulatory Telemetry

Advanced cardiac ambulatory telemetry is a series of EKG tests that record the heart rhythm for a period of time, from 24 hours up to 4 weeks, if needed. It can help detect any changes in heart rhythm that may not be revealed during a standard EKG.

You may be required to wear a Holter monitor, a device the size of a smartphone that records changes in heart rhythm over a 24-hour period. Or you may be asked to wear an event monitor, a device that records arrhythmias. When you notice symptoms, such as heart palpitations, you start the device. Some event monitors automatically record irregular heart rhythms.

During these tests, you perform your usual activities while wearing the monitor, which connects to sticky electrodes on the chest. The monitor can be slung over your neck or attached to your belt or pants. The devices cannot get wet, so they aren’t worn during showers or baths.

Depending on the type of monitor used, you return to NYU Langone up to a month after the test. Your doctor then can assess the information that has been collected and determine whether you have a heart rhythm disorder.

Electrophysiological Test

An electrophysiological test helps your doctor determine the origin of an arrhythmia, assess the effectiveness of medication for heart rhythm disorders, or choose new treatments.

During this test, electrode catheters—thin, flexible wires with electrodes at the tip—send electrical signals to the heart, allowing your doctor to determine how the heart reacts to them.

This procedure is performed using sedation and local anesthesia. Doctors use a needle to puncture a small hole in the groin or neck and guide several catheters to the heart through an artery or a vein. A continuous X-ray called fluoroscopy provides real-time images of the heart, helping to guide the doctor.

Next, electrical pulses are sent through the catheters to trigger an arrhythmia. Your doctor reviews the results on a computer to help identify the location and type of arrhythmia so it can be treated.

When the catheters reach the heart, you may feel extra or skipped heartbeats. Tell your doctor if you experience chest pain, discomfort, or heaviness.

An electrophysiology study takes two to four hours to complete and typically requires an overnight hospital stay.

Cardiac Catheterization

Cardiac catheterization allows your heart specialist to diagnose problems with the heart caused by congenital defects, such as leaky or narrowed heart valves, holes in the walls between chambers, or a narrowing of blood vessels.

Cardiac catheterization also helps your doctor evaluate how well the heart is pumping blood, identify blockages in the arteries, and check for heart defects. It can measure blood pressure inside the heart and oxygen levels in the blood.

During this procedure, which is performed using sedation or general anesthesia, your doctor inserts a long, thin tube called a catheter into a blood vessel in the arm, neck, or groin. Using X-ray or ultrasound imaging, he or she guides the catheter to the heart to determine how well the organ is functioning.

Your doctor may also perform a diagnostic test called a coronary angiogram, in which a contrast agent is injected into the arteries to provide a clearer view of blood flow. This can help your doctor identify dislocation of major arteries.

A cardiac catheterization procedure takes 30 to 90 minutes. Many people go home the day of the procedure, but those with underlying health conditions may stay overnight in the hospital.

This catheter-based procedure can also be used to manage congenital heart defects.