Symptoms

Some congenital heart defects cause no signs or symptoms. For some people, signs or symptoms occur later in life. They can recur years after you've had treatment for a heart defect.

Common congenital heart disease symptoms you might have as an adult include:

• 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)

When to see a doctor

If you're having worrisome symptoms, such as chest pain or shortness of breath, seek emergency medical attention.

If you have signs or symptoms of congenital heart disease or were treated for a congenital heart defect as a child, make an appointment to see your doctor.

Causes

Researchers aren't sure what causes most congenital heart disease, which develops in the womb. Heredity might play a role in some congenital heart disease.

How the heart works

The heart is divided into two chambers on the right and two on the left. To pump blood through the body, the heart uses its left and right sides differently.

The right side of the heart moves blood to the lungs through certain blood vessels (pulmonary arteries). In the lungs, blood picks up oxygen and then returns to the left side through the pulmonary veins. The left side of the heart then pumps the blood through the aorta and out to the rest of the body.

Congenital heart disease can affect any of the heart's structures, including valves, chambers, the wall of tissue that separates the chambers (septum) and arteries.

Why congenital heart disease resurfaces in adulthood

For some adults, problems with their heart defects arise later in life, even if treated in childhood. Repairing defects improves heart function, but might not make the heart completely normal.

Even if the treatment you received in childhood was successful, a problem can occur or worsen as you age. It's also possible that problems in your heart, which weren't serious enough to repair when you were a child, have worsened and now require treatment.

Then there are complications of childhood surgeries to correct congenital heart disease that can occur later, such as scar tissue in your heart that contributes to an abnormal heart rhythm (arrhythmia).

Risk factors

Certain environmental and genetic risk factors might play a role in the development of your heart defect, including:

• German measles (rubella). Your mother having had rubella while pregnant could have affected your heart development.
• Diabetes. 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.
• Medications. 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.
• Heredity. 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.
• Smoking. A mother who smokes while pregnant increases her risk of having a child with a congenital heart defect.

Complications

Congenital heart disease complications that might develop years after the initial treatment include:

• Abnormal heart rhythms (arrhythmias). Arrhythmias occur when the electrical impulses that coordinate heartbeats don't function properly, causing your heart to beat too fast, too slowly or irregularly. In some people, severe arrhythmias can cause sudden cardiac death if not treated.

• Heart infection (endocarditis). Your heart comprises four chambers and four valves, which are lined by a thin membrane called the endocardium. Endocarditis is an infection of this inner lining, which generally occurs when bacteria or other germs enter your bloodstream and lodge in your heart. Untreated, endocarditis can damage or destroy your heart valves or trigger a stroke.

  If you have an artificial (prosthetic) heart valve or your heart was repaired with prosthetic material, or if your heart defect wasn't completely repaired, your doctor might prescribe ongoing antibiotics to lower your risk of developing endocarditis.

• Stroke. Stroke occurs when the blood supply to a part of your brain is interrupted or severely reduced, depriving brain tissue of oxygen. A congenital heart defect can allow a blood clot to pass through your heart and travel to your brain.

  Certain heart arrhythmias also can increase your chance of blood clot formation leading to a stroke.

• Heart failure. Heart failure, also known as congestive heart failure, means your heart can't pump enough blood to meet your body's needs. Some types of congenital heart disease can lead to heart failure.

  Over time, certain conditions such as coronary artery disease or high blood pressure gradually sap your heart of its strength, leaving it too weak or too stiff to fill and pump efficiently.

• Pulmonary hypertension. This is a type of high blood pressure that affects the arteries in your lungs. Some congenital heart defects cause more blood to flow to the lungs, causing pressure to build and making your heart work harder. This eventually causes your heart muscle to weaken and sometimes to fail.
• Heart valve problems. In some types of congenital heart disease, the heart valves are abnormal.

Coping and support

One important thing to do if you're an adult with congenital heart disease is to become educated about your condition. Topics you should become familiar with include:

• The name and details of your heart condition and its past treatment
• How often you should be seen for follow-up care
• Information about your medications and their side effects
• How to prevent heart infections (endocarditis), if necessary
• Exercise guidelines and work restrictions
• Birth control and family planning information
• Health insurance information and coverage options
• Dental care information, including whether you need antibiotics before major dental procedures
• Symptoms of your congenital heart disease and when you should contact your doctor

Many adults with congenital heart disease lead full, long and productive lives. But it's important not to ignore your condition. Become informed about your disease; the more you know, the better you'll do.

Preparing for an appointment

If you have a congenital heart defect, make an appointment with your doctor for follow-up care, even if you haven't developed complications. You'll likely be referred to a doctor trained in diagnosing and treating heart conditions (cardiologist).

Here's some information to help you get ready for your appointment.

What you can do

When you make the appointment, ask if there's anything you need to do in advance, such as restrict your diet or fast. Make a list of:

• Your symptoms, if any, including any that may seem unrelated to congenital heart disease, and when they began
• Key personal information, including a family history of heart defects and treatment you received as a child
• All medications, vitamins or other supplements you take and their doses
• Questions to ask your doctor

Take a family member or friend with you, if possible, to help you remember the information you get. For congenital heart disease, questions to ask your doctor include:

• What's the most likely cause of my symptoms?
• What tests do I need?
• What treatments are available? Which do you recommend for me?
• Are there diet or activity restrictions I need to follow?
• How often should I be screened for complications from my heart defect?
• I have other health conditions. How can I best manage these conditions together?
• Are there brochures or other printed material that I can have? What websites do you recommend?

Don't hesitate to ask other questions.

What to expect from your doctor

Your doctor is likely to ask you questions, including:

• Do your symptoms come and go, or do you have them all the time?
• How severe are your symptoms?
• Does anything seem to improve your symptoms?
• What, if anything, worsens your symptoms?
• What's your lifestyle like, including your diet, tobacco use, physical activity and alcohol use?

Overview

Partial anomalous pulmonary venous return (PAPVR) is a rare heart defect that's present at birth (congenital heart defect). This condition may also be called partial anomalous pulmonary venous connection (PAPVC).

In this heart defect, some but not all of the lung blood vessels (pulmonary veins) are attached to the wrong place in the heart.

Normally, oxygen-rich blood goes from the lungs to the upper left heart chamber (left atrium) and then flows through the body. In PAPVR, an abnormal connection of veins sends blood into other blood vessels and into the upper right heart chamber (right atrium), where it mixes with oxygen-poor blood. As a result, extra oxygen-rich blood flows back to the lungs.

Some people with this heart defect also have a hole between the upper heart chambers (atrial septal defect), which allows blood to flow between the upper heart chambers (atria). Other congenital heart defects also may occur. A child born with Turner syndrome has an increased risk of PAPVR.

Diagnosis

If PAPVR occurs with other heart defects, it may be diagnosed soon after birth. If the condition is mild, it may not be diagnosed until adulthood.

The doctor will perform a physical exam and listen to the heart with a stethoscope to check for a heart murmur.

An echocardiogram is generally used to diagnose total anomalous pulmonary venous return. This test uses sound waves to create images of the heart in motion. An echocardiogram can show pulmonary veins, holes in the heart and the size of the heart chambers. It can also measure the speed of blood flow.

Other tests such as an electrocardiogram (ECG or EKG), a chest X-ray, a magnetic resonance imaging (MRI) scan or a computerized tomography (CT) scan may be done if more information is needed.

Treatment

If you aren't having symptoms or if there isn't much mixing of oxygen-rich and oxygen-poor blood, surgery may not be needed to treat this condition.

Surgery may be needed if there is a large amount of oxygen-rich and oxygen-poor blood mixing in the heart, or if the condition causes many lung infections. If surgery for another heart condition is needed, surgeons may repair this heart defect at the same time.

To repair this defect, surgeons generally reconnect the pulmonary veins to the left atrium. Surgeons will also close the hole in the heart if there is one.

Children will need regular follow-up appointments with pediatric cardiologists. Adults with this heart defect will need lifelong care and regular follow-up appointments with doctors trained in congenital heart conditions (adult congenital cardiologists) to monitor for any changes in their condition.