Congenital heart disease, or a congenital heart defect, is a heart abnormality present at birth. The problem can affect:
- the heart walls
- the heart valves
- the blood vessels
There are numerous types of congenital heart defects. They can range from simple conditions that don’t cause symptoms to complex problems that cause severe, life-threatening symptoms.
According to the Centers for Disease Control and Prevention, there are currently 1 million adults and 1 million children in the United States living with congenital heart defects. Treatments and follow-up care for defects have improved drastically over the past few decades, so nearly all children with heart defects survive into adulthood. Some need continuous care for their heart defect throughout their lives. However, many go on to have active and productive lives despite their condition.
Though there are many different types of congenital heart defects, they can be divided into three main categories:
- In heart valve defects, the valves inside the heart that direct blood flow may close up or leak. This interferes with the heart’s ability to pump blood correctly.
- In heart wall defects, the natural walls that exist between the left and right sides and the upper and lower chambers of the heart may not develop correctly, causing blood to back up into the heart or to build up in places where it doesn’t belong. The defect puts pressure on the heart to work harder, which may result in high blood pressure.
- In blood vessel defects, the arteries and veins that carry blood to the heart and back out to the body may not function correctly. This can reduce or block blood flow, leading to various health complications.
Cyanotic and Acyanotic Congenital Heart Disease
Many doctors classify congenital heart disease as either cyanotic congenital heart disease or acyanotic congenital heart disease. In both types, the heart isn’t pumping blood as efficiently as it should. The main difference is that cyanotic congenital heart disease causes low levels of oxygen in the blood, and acyanotic congenital heart disease doesn’t. Babies with reduced oxygen levels may experience breathlessness and a bluish tint to their skin. Babies who have enough oxygen in their blood don’t display these symptoms, but they may still develop complications later in life, such as high blood pressure.
A congenital heart defect is often detected during a pregnancy ultrasound. If your doctor hears an abnormal heartbeat, for instance, they may further investigate the issue by performing certain tests. These may include an echocardiogram, a chest X-ray, or an MRI scan. If a diagnosis is made, your doctor will make sure the appropriate specialists are available during delivery.
In some cases, the symptoms of a congenital heart defect may not appear until shortly after birth. Newborns with heart defects may experience:
- bluish lips, skin, fingers, and toes
- breathlessness or trouble breathing
- feeding difficulties
- low birth weight
- chest pain
- delayed growth
In other cases, the symptoms of a congenital heart defect may not appear until many years after birth. Once symptoms do develop, they may include:
- abnormal heart rhythms
- trouble breathing
Congenital heart disease occurs as a result of an early developmental problem in the heart’s structure. The defect typically interferes with the normal flow of blood through the heart, which may affect breathing. Although researchers aren’t exactly sure why the heart fails to develop correctly, suspected causes include the following:
- The heart defect may run in families.
- Taking certain prescription drugs during pregnancy puts a child at a higher risk for a heart defect.
- Using alcohol or illegal drugs during pregnancy can increase a child’s risk of having a heart defect.
- Mothers who had a viral infection during the first trimester of pregnancy are more likely to give birth to a child with a heart defect.
- Increased blood sugar levels, such as occurs with diabetes, may affect childhood development.
The treatment for a congenital heart defect depends on the type and severity of the defect. Some babies have mild heart defects that heal on their own with time. Others may have severe defects that require extensive treatment. In these cases, treatment may include the following:
There are various medications that can help the heart work more efficiently. Some can also be used to prevent blood clots from forming or to control an irregular heartbeat.
Implantable Heart Devices
Some of the complications associated with congenital heart defects can be prevented with the use of certain devices, including pacemakers and implantable cardioverter defibrillators (ICDs). A pacemaker can help regulate an abnormal heart rate, and an ICD may correct life-threatening irregular heartbeats.
Catheterization techniques allow doctors to repair certain congenital heart defects without surgically opening the chest and heart. During these procedures, the doctor will insert a thin tube into a vein in the leg and guide it up to the heart. Once the catheter is in the correct position, the doctor will use small tools threaded through the catheter to correct the defect.
This type of surgery may be needed if catheter procedures aren't enough to repair a congenital heart defect. A surgeon may perform open-heart surgery to close holes in the heart, repair heart valves, or widen blood vessels.
In the rare cases in which a congenital heart defect is too complex to fix, a heart transplant may be needed. During this procedure, the child's heart is replaced with a healthy heart from a donor.
Depending on the defect, diagnosis and treatment may begin shortly after birth, during childhood, or in adulthood. Some defects don’t cause any symptoms until the child becomes an adult, so diagnosis and treatment may be delayed. In these cases, the symptoms of a newly discovered congenital heart defect may include:
- shortness of breath
- chest pain
- a reduced ability to exercise
- being easily fatigued
The treatment for congenital heart disease in adults can also vary depending on the severity of the heart defect. Some people may only need to monitor their condition closely, and others may require medications and surgeries.
In some cases, defects that may have been treated in childhood can present problems again in adulthood. The original repair may no longer be effective or the initial defect may have become worse over time. Scar tissue that developed around the original repair may also end up causing problems, such as heart arrhythmias.
Regardless of your situation, it’s important to continue seeing your doctor for follow-up care. Treatment may not cure your condition, but it can help you maintain an active, productive life. It will also reduce your risk for serious complications, such as heart infections, heart failure, and stroke.
Women who are pregnant or plan on becoming pregnant can take certain precautions to lower their risk of giving birth to a baby with a congenital heart defect:
- If you’re planning on becoming pregnant, talk to your doctor about any prescription or over-the-counter medications you’re taking.
- If you have diabetes, make sure your blood sugar levels are under control before becoming pregnant. It’s also important to work with your doctor to manage the disease while pregnant.
- If you weren’t vaccinated against rubella, or German measles, avoid exposure to the disease and speak with your doctor about prevention options.
- If you have a family history of congenital heart defects, ask your doctor about genetic screening. Certain genes may contribute to abnormal heart development.
- Avoid drinking alcohol and using illegal drugs during pregnancy.