Congenital heart disease

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Diagnosis

To diagnose congenital heart disease in adults, your health care provider will do a physical exam and listen to your heart with a stethoscope. You will be asked questions about your symptoms and medical and family history.


Tests can be done to check the heart's health and look for other conditions that may cause similar signs and symptoms.


Tests

Tests to diagnose or confirm congenital heart disease in adults and children include:


Electrocardiogram (ECG). This painless test records the electrical signals in the heart. An ECG can tell how fast or slow the heart is beating. An ECG can help identify irregular heartbeats (arrhythmias).

Chest X-ray. A chest X-ray can show changes in the size and shape of the heart and the lungs.

Pulse oximetry. A small sensor attached to the finger can estimate how much oxygen is in the blood.

Echocardiogram. Sound waves (ultrasound) create images of the moving heart. An echocardiogram can show blood flow through the heart and heart valves. Echocardiograms may also be done while you exercise, typically on a bike or treadmill.

Transesophageal echocardiogram. If more-detailed images of the heart are needed, a transesophageal echocardiogram may be done. In this test, a flexible tube containing the transducer is guided down the throat and into the tube connecting the mouth to the stomach (esophagus).

Exercise tests or stress tests. These tests often involve walking on a treadmill or riding a stationary bike while the heart is monitored by ECG. Exercise tests help reveal how the heart responds to physical activity.

Heart CT scan and heart MRI. These tests create images of the heart and chest. A heart (cardiac) CT scans use X-rays. Cardiac MRI uses a magnetic field and radio waves. For both tests, you lie on a table that typically slides inside a long tubelike machine.

Cardiac catheterization. This test can be done to check blood flow and blood pressures in the heart. A doctor gently inserts a catheter into a blood vessel, usually in the groin, and up to the heart. X-rays are used to guide the catheter to the correct position. Sometimes, dye is injected through the catheter. The dye helps blood vessels show up better on the images.

Treatment

Treatment of congenital heart defects in children depends on the specific type of heart problem and how severe it is. Sometimes, a congenital heart defect may have no long-term effect on a child's health and may safely go untreated. Other congenital heart defects, such as a small hole in the heart, may close as a child ages.

Serious congenital heart defects require treatment soon after they're diagnosed. Treatment may involve medications, heart procedures or surgeries, or a heart transplant.

Medications

Medications may be given to treat symptoms or complications of a congenital heart defect. They may be used alone or with a heart procedure. Medications for congenital heart defects include:

Blood pressure drugs. Examples include angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs) and beta blockers.

Water pills (diuretics). This type of medication reduces the amount of fluid in the body, which reduces the strain on the heart.

Heart rhythm drugs. These medications, called anti-arrhythmics, help control an irregular heartbeat (arrhythmia).

Surgery or other procedures

If your child has a severe congenital heart defect, a heart procedure or surgery may be recommended. Heart procedures and surgeries done to treat congenital heart defects include:

Cardiac catheterization. Some congenital heart defects can be repaired using thin, flexible tubes (catheters) without the need for open-heart surgery. For example, cardiac catheterization may be used to fix holes in the heart or areas of narrowing.

During cardiac catheterization, the health care provider inserts one or more catheters into a blood vessel, usually in the groin, and to the heart. Tiny tools are passed through the catheter to the heart to repair the defect. Some catheter procedures have to be done in steps over a period of years.

Heart surgery. A child may need open-heart surgery or minimally invasive heart surgery to repair a congenital heart defect. The type of heart surgery depends on the specific defect.

Heart transplant. If a serious heart defect can't be repaired, a heart transplant may be needed.

Fetal cardiac intervention. Rarely, if a serious defect is diagnosed before birth, a procedure can be done during pregnancy to correct the problem or help reduce complications of the defect as the child grows. Fetal cardiac intervention is rarely done and only possible in very specific circumstances.