Congenital heart disease in adults

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Kemas kini Tarikh 12/05/2020 . 6 minit bacaan
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What is congenital heart disease in adults?

Congenital heart disease (congenital heart defect) is one or more abnormalities in your heart’s structure that you’re born with. This most common of birth defects can alter the way blood flows through your heart. Defects range from simple, which might cause no problems, to complex, which can cause life-threatening complications.

Advances in diagnosis and treatment mean most babies who once died of congenital heart disease survive well into adulthood. However, signs and symptoms of the condition can occur in adults later in life, even those who had treatment as a child.

If you have congenital heart disease you might need care throughout your life. Check with your doctor to determine how often you should be seen as an adult.

How common is congenital heart disease in adults?

Please discuss with your doctor for further information.


What are the symptoms of congenital heart disease in adults?

The common symptoms of congenital heart disease in adults are:

  • Abnormal heart rhythms (arrhythmias)
  • A bluish tint to the skin, lips and fingernails (cyanosis)
  • Shortness of breath
  • Tiring quickly upon exertion
  • Swelling of body tissue or organs (edema)

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes congenital heart disease in adults?

Congenital heart disease is caused when something disrupts the normal development of the heart.

It’s thought that most cases occur when something affects the heart’s development during about week five of pregnancy. This is when the heart is developing from a simple tube-like structure into a shape more like a fully-formed heart.

While some things are known to increase the risk of congenital heart disease, no obvious cause is identified in most cases.

Risk factors

What increases my risk for congenital heart disease in adults?

There are many risk factors for congenital heart disease in adults, such as:

  • German measles (rubella). Your mother having had rubella while pregnant could have affected your heart development.
  • Your mother having type 1 or type 2 diabetes might have interfered with the development of your heart. Gestational diabetes generally doesn’t increase the risk of developing a heart defect.
  • Taking certain medications while pregnant can cause congenital heart and other birth defects. They include isotretinoin (Amnesteem, Claravis, others), used to treat acne; and lithium, used to treat bipolar disorder. Drinking alcohol while pregnant also contributes to the risk of heart defects.
  • Congenital heart disease appears to run in families and is associated with many genetic syndromes. For instance, children with Down syndrome often have heart defects. Genetic testing can detect Down syndrome and other disorders during a baby’s development.
  • A mother who smokes while pregnant increases her risk of having a child with a congenital heart defect.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is congenital heart disease in adults diagnosed?

To determine whether you have a type of congenital heart disease or if the congenital heart defect is causing recent health problems, your doctor will take a medical history and conduct a physical exam, including listening to your heart with a stethoscope.

Your doctor then might order tests, including:

  • Electrocardiogram (ECG). This measures the pace and amount of electrical activity of your heart to determine if the electrical activity is normal. An ECG can determine if a part of the heart is enlarged.
  • Chest X-ray. These images help your doctor further evaluate your heart and lungs.
  • Sound waves (ultrasound) produce images of the moving heart that your doctor can use to identify heart abnormalities.
  • Transesophageal echocardiogram. This special type of ultrasound produces images of your heart that provide more information than does a standard echocardiogram. While you’re sedated, your doctor places an instrument with a small ultrasound probe on the end into the tube that connects your throat with your stomach (esophagus).
  • Pulse oximetry. A small sensor attached to a finger can estimate how much oxygen is in your blood.
  • Exercise stress test. Connected to ECG leads, you exercise on a treadmill or a stationary bicycle so that your doctor can determine your level of conditioning and your heart’s electrical activity, heart rate and blood pressure during exercise. If you can’t exercise, your doctor might give you medication to increase your heart rate. Your stress test may also include an echocardiogram and special sensors to determine your oxygen use.
  • Cardiac CT scan or MRI. For a cardiac CT scan, you lie on a table inside a doughnut-shaped machine. An X-ray tube inside the machine rotates around your body and collects images of your heart and chest. Cardiac MRI uses a magnetic field and radio waves to create images of your heart. You lie on a table inside a long tubelike machine.
  • Cardiac catheterization. Your doctor might use this test to check blood flow and blood pressures in your heart. You’ll likely be given sleeping medication before a catheter is inserted into an artery, starting in your groin, neck or arm. It’s then threaded to your heart with guidance from an X-ray machine. Dye is injected through the catheter, and the X-ray machine makes images of your heart and blood vessels. The pressure in the heart chambers can be measured during this procedure.

How is congenital heart disease in adults treated?

Depending on the severity of your congenital heart disease, treatment might be aimed at correcting the congenital heart defect or dealing with complications caused by the defect. Treatment might include:

  • Watchful waiting. Relatively minor heart defects might require only periodic checkups with your doctor to make sure your condition doesn’t worsen. Ask your doctor how often you need to be seen.
  • Some mild congenital heart defects can be treated with medications that help the heart work more efficiently. You might also need medications to prevent blood clots or to control an irregular heartbeat.
  • Implantable heart devices. Devices that help control your heart rate (pacemaker) or that correct life-threatening irregular heartbeats (implantable cardioverter-defibrillator, or ICD) can help some of the complications associated with congenital heart defects.
  • Special procedures using catheters. Some congenital heart defects can be repaired using catheterization techniques, which allow the repair to be done without surgically opening the chest and heart. In these procedures, the doctor inserts a thin tube (catheter) into a leg vein and guides it to the heart with the help of X-ray images. Once the catheter is in position, the doctor threads tiny tools through the catheter to repair the defect.
  • Open-heart surgery. If catheter procedures can’t fix your heart defect, your doctor might recommend open-heart surgery.
  • Heart transplant. If a serious heart defect can’t be repaired, a heart transplant might be an option.

Needed follow-up care

Many adults with congenital heart disease believe they’ve either outgrown their condition or that childhood treatment cured them. This might not be true, depending on the type of defect.

If you have congenital heart disease, even if you had surgery as a child, you’re at risk of developing complications. So it’s important to have lifelong follow-up care, especially if you had corrective heart surgery.

This follow-up care could be as simple as having periodic checkups with your doctor, or it may involve regular screenings for complications. The important thing is to discuss your care plan with your doctor and make sure you follow all of your doctor’s recommendations.

Ideally, a cardiologist trained in treating adults with congenital heart defects will manage your care.

Congenital heart disease and pregnancy

A successful pregnancy is possible if you have congenital heart disease, especially if your defect was mild. However, some women with complex congenital heart defects are advised against pregnancy.

Before you become pregnant, discuss with your doctor possible risks and special care you might need during pregnancy.

Both men and women with congenital heart disease are at increased risk of passing some form of congenital heart disease to their children. Your doctor might suggest genetic counseling if you plan to become pregnant.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage congenital heart disease in adults?

As so little is known about the causes of congenital heart disease, there’s no guaranteed way of avoiding having a baby with the condition.

However, if you’re pregnant, the following advice can help reduce the risk:

  • Ensure you are vaccinated against rubella and flu.
  • Avoid drinking alcohol or taking drugs.
  • Take 400 micrograms of folic acid supplement a day during the first trimester (first 12 weeks) of your pregnancy – this lowers your risk of giving birth to a child with congenital heart disease, as well as several other types of birth defect.
  • Check with your GP or pharmacist before you take any medication during pregnancy, including herbal remedies and medication that’s available over the counter.
  • Avoid contact with people who are known to have an infection.
  • If you have diabetes, make sure it’s controlled.
  • Avoid exposure to organic solvents, such as those used in dry cleaning, paint thinners and nail polish remover.

If you have congenital heart disease and become pregnant, your congenital heart specialist will usually arrange an echocardiogram (heart scan) for your baby approximately 20 weeks into your pregnancy. This is to check whether your baby has any evidence of congenital heart disease. This scan will be in addition to your usual antenatal ultrasound scans.

If you have any questions, please consult with your doctor to better understand the best solution for you.

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