Overview
Diagnosis
To diagnose congenital heart disease in adults, a healthcare professional examines you and listens to your heart with a stethoscope. You are usually asked questions about current symptoms and your medical and family history.
Tests
Tests are used to check overall heart health and rule out other conditions that may cause similar symptoms.
Common tests to diagnose or confirm congenital heart disease in adults include:
• Electrocardiogram (ECG). This quick test records the electrical activity of the heart and shows how the heart is beating. Sticky patches with sensors called electrodes are placed on the chest and sometimes the arms or legs. Wires connect the sensors to a computer that prints or displays the results. An ECG can help diagnose irregular heart rhythms.
• Chest X-ray. A chest X-ray shows the condition of the heart and lungs. It can reveal an enlarged heart or extra blood or fluid in the lungs, which may be signs of heart failure.
• Pulse oximetry. A sensor placed on the fingertip measures how much oxygen is in the blood. Low oxygen levels may indicate a heart or lung condition.
• Echocardiogram. This test uses sound waves to create images of the beating heart. It shows how blood flows through the heart and heart valves. A standard echocardiogram takes pictures from outside the body.
If a standard echocardiogram does not provide enough detail, a transesophageal echocardiogram may be done. This test gives a closer look at the heart and the aorta by creating images from inside the body. It is often used to examine the aortic valve.
• Exercise stress tests. These tests usually involve walking on a treadmill or riding a stationary bike while the heart is monitored. They show how the heart responds to physical activity. If you cannot exercise, medicines may be used to mimic the effect of exercise. An echocardiogram may be done during the stress test.
• Heart MRI. Also called a cardiac MRI, this test provides 3D images of the heart and allows accurate measurement of the heart chambers. It is often used to diagnose and evaluate congenital heart disease.
• Cardiac catheterization. In this test, a thin tube called a catheter is inserted into a blood vessel, usually in the groin, and guided to the heart. It provides detailed information about blood flow and heart function. Some treatments can also be done during this procedure.
Some or all of these tests may also be used when diagnosing congenital heart defects in children.
Treatment
Many people born with a congenital heart defect are treated successfully in childhood. In some cases, repair may not be needed until adulthood or symptoms may not appear until later in life.
Treatment for congenital heart disease in adults depends on the specific heart condition and its severity. Mild conditions may only require routine checkups.
Other treatments may involve medications or procedures.
Medications
Some mild types of congenital heart disease in adults can be managed with medicines that help the heart work more efficiently. Medicines may also be prescribed to prevent blood clots or to control irregular heart rhythms.
Surgeries and other procedures
Some adults with congenital heart disease may need medical devices or heart surgery.
• Implantable heart devices. A pacemaker or an implantable cardioverter-defibrillator may be needed to manage complications related to congenital heart disease.
• Catheter-based treatments. Some conditions can be repaired using thin tubes called catheters, allowing treatment without open-heart surgery. A catheter is inserted through a blood vessel and guided to the heart. Tiny tools passed through the catheter are used to fix the heart.
• Open-heart surgery. If catheter procedures cannot repair the condition, open-heart surgery may be required. The type of surgery depends on the specific heart defect.
• Heart transplant. If a severe heart condition cannot be treated, a heart transplant may be necessary.
Follow-up care
Adults with congenital heart disease face a lifelong risk of complications, even if surgery was done during childhood. Ongoing follow-up care is important. Ideally, a congenital cardiologist, a doctor trained in managing adult congenital heart disease, should oversee treatment.
Follow-up care may include blood tests and imaging to check for complications. The frequency of checkups depends on whether the condition is mild or more complex.
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