What is Adult Congenital Heart Disease?
Adult congenital heart disease (ACHD) refers to heart defects that start at birth and affect a person throughout life. These types of defects impact how the heart works. Some affect how the heart pumps blood. Others change how blood flows through the heart, lungs and the rest of the body.
Types of Adult Congenital Heart Disease
There are many types of ACHD. Some of the most common include:
Atrial septal defect (ASD). There is a hole in the wall between the two upper chambers of the heart. Normally, these chambers separate oxygen-rich blood from oxygen-poor blood. If there’s a hole, blood can flow in the wrong direction. This makes the heart work harder.
Ventricular septal defect (VSD). This is a hole in the wall between the two lower chambers of the heart. Similar to ASD, this hole lets blood flow in the wrong direction. Over time, this can cause problems for the heart and lungs because they have to work harder to move blood through the body.
Single ventricle defects. These are defects where only one of the lower chambers of the heart (called a ventricle) functions. Babies with conditions like hypoplastic left heart syndrome (HLHS) or tricuspid atresia need surgery to survive. Normally, the heart uses two ventricles. One pumps blood to the lungs, and the other pumps it to the rest of the body. Surgeries, like the Fontan procedure, take the strain off the heart and help it do its job.
Symptoms of Adult Congenital Heart Disease
The symptoms of ACHD differ depending on the type of heart defect, but some common signs include:
- Shortness of breath
- Feeling tired, especially during physical activity
- Swelling in the legs, ankles or belly
- Irregular heartbeats (arrhythmias)
- Bluish skin (called cyanosis) due to low oxygen levels
Causes of Adult Congenital Heart Disease
ACHD is caused by heart defects that develop before birth. Sometimes, the exact cause isn't known. Congenital heart defects can be caused by genes passed down in families. They also can be caused by things that happen to the mother during pregnancy. Illnesses like rubella (German measles), uncontrolled diabetes and some viral infections can raise the risk of heart defects. Even some medicines like anti-seizure drugs, Accutane (for acne) and some mental health drugs can increase the risk. Talk to your doctor about the medicines you are taking if you are pregnant.
Prevention
Many congenital heart defects cannot be prevented. If you are pregnant, there are steps you can take to reduce the risk, such as:
- Taking prenatal vitamins with folic acid
- Avoiding alcohol and smoking
- Managing health conditions like diabetes
Diagnosis for Adult Congenital Heart Disease
A person can be diagnosed with congenital heart disease at different ages. Many are diagnosed as babies or children if their heart defect is found early. Sometimes, these defects are discovered before birth during a pregnancy ultrasound. Others may not be found until adulthood, especially if the condition causes few or no symptoms when the person is young. If you have symptoms like shortness of breath, fatigue or irregular heartbeats, see your doctor for testing.
ACHD is diagnosed through several tests, which help doctors see how well the heart is functioning:
- Echocardiogram. This ultrasound of the heart allows doctors to see how well the heart is working. It looks at the heart's structure and function and how blood flows through it.
- Electrocardiogram (ECG). An ECG measures the electrical activity of the heart and helps detect any irregular heart rhythms.
- MRI or CT scan. These scans give doctors a detailed picture of the heart and blood vessels to help plan surgery.
- Heart catheterization. Doctors use a catheter (a thin tube) to get a closer look at the heart's blood flow and pressure. This involves inserting the catheter into a blood vessel and guiding it to the heart to take measurements.
Treatment of Adult Congenital Heart Disease
Treatment for ACHD depends on how serious the heart defect is and how it affects your daily life. Treatments can range from medications to surgeries and sometimes a combination of both. Here are some common treatments:
Medications. Doctors may prescribe medicines to manage symptoms like irregular heartbeats (arrhythmias), high blood pressure or heart failure. These medications help your heart pump blood better and keep your heartbeat steady. Depending on your condition, you might take medicine for a short time or need it long term.
Surgery or catheter-based procedures. Some people with ACHD need surgery to repair or improve their heart’s structure. Some surgeries use a catheter (a thin tube) to fix the problem without needing open-heart surgery. This is less invasive and can help reduce your recovery time.
Heart transplant. In severe cases, when the heart becomes too weak or damaged to function properly, a heart transplant might be needed. This is only done when other treatments no longer work and the heart can’t pump blood effectively.
Risk Factors for Those with Adult Congenital Heart Disease
Adults with ACHD, especially those who’ve had surgeries, may face some additional risks as they get older. These surgeries help improve how the heart works, but they also can lead to complications over time. Here are some common risks:
Arrhythmias (irregular heartbeats). People with ACHD are more likely to have abnormal heartbeats as they age. These can be either too fast, too slow or just irregular. Fast heartbeats can make you feel dizzy or weak, while slow heartbeats might cause fatigue. You may need to take medications to control your heartbeat. In some cases, you may need a pacemaker to help your heart beat at the right pace.
Cyanosis (bluish skin). Adults with ACHD may develop cyanosis, which is when the skin, lips or nails turn bluish due to low oxygen in the blood. This can happen if there are problems with the way blood flows through the heart or lungs. If cyanosis gets worse, see a doctor right away for treatment.
Liver disease. As blood flow changes due to ACHD or surgeries like the Fontan procedure, extra strain can be put on the liver. Over time, this can cause liver damage, scarring (called fibrosis) or liver disease. Have regular check-ups with your doctor to keep an eye on your liver health. You might need blood tests or imaging, like an ultrasound, to check for any signs of liver problems.
Heart failure. Over the years, the heart of someone with ACHD can weaken, which is known as heart failure. This means the heart isn’t pumping blood as well as it should. Signs of heart failure include feeling very tired, having shortness of breath and swelling in the legs or belly. Medicines can help manage these symptoms. In more serious cases, surgery or other treatments might be needed to improve heart function.
Even though these risks increase as adults with ACHD age, regular check-ups with a heart specialist, called a cardiologist, can help catch problems early. Follow your doctor’s advice, stay active and take care of your overall health, so that you can continue to live a full, active life.
Outlook for Those with Adult Congenital Heart Disease
With proper care, many people with ACHD can live full, productive lives. Even if you feel fine, you still need to see a doctor throughout your life. Heart conditions can change or cause problems over time. Regular check-ups with a cardiologist can help catch issues early and keep the heart as healthy as possible. Your doctor will let you know how often you need check-ups based on your heart condition.
Living with Adult Congenital Heart Disease
Living with ACHD means regular visits with a cardiologist to catch potential problems early. Staying active and maintaining a healthy lifestyle are important, too. Many people with ACHD can live fulfilling lives, although some may need additional surgeries or treatments as they age. With the right care, they can continue to thrive.
Women with ACHD will need to take extra precautions when considering pregnancy. Pregnancy puts extra strain on the heart because it needs to pump more blood to support both the woman and her growing baby. This means her heart has to beat harder and faster throughout the pregnancy. This extra work can sometimes be too much for the heart. This depends on the type of heart defect and how well it has been managed.
Talk with your cardiologist about what birth control methods are safe and work for you. Planning a pregnancy when your heart health is at its best will give you the best chance for a healthy pregnancy and baby.
Before trying to get pregnant, talk to your cardiologist (heart doctor). They can help you understand how your heart condition might affect pregnancy and whether it’s safe for you. Some women with ACHD may need special care or treatment through a cardio-obstetrics program to make pregnancy safer.
It’s important for those with ACHD to find ongoing care with a doctor who specializes in treating patients with ACHD. Find a program that includes a dedicated team of cardiologists, hepatologists (liver doctors) and other specialists who work together to monitor and manage problems. These teams can provide lifelong care to ensure you have the best possible outcome as you age.
