What Is Congenital Heart Disease?

Congenital heart disease (CHD) is a broad name for any abnormality you are born with that affects the structure of your heart or its function (the way it works). CHD is the most common type of birth defect and unfortunately, also the leading cause of childhood death. About 1% of infants born globally are born with CHD.

It's easy to confuse congenital heart disease with a congenital heart defect—but these conditions are not the same. While CHD can occur due to a heart defect, a congenital heart defect does not always lead to symptoms of CHD.

Even though CHD sounds like one disease, it includes a wide range of conditions that change the blood flow through your heart. Each condition under the umbrella of CHD can cause its own set of symptoms, but common symptoms may include an abnormal heart rhythm and fatigue. But in up to 85% of cases, the cause of CHD is unknown. At this time, there is no cure for CHD but treatments can help manage symptoms.

Congenital Heart Disease Symptoms

Because CHD includes any condition that affects the structure and function of your heart, there's no defined set of symptoms. Instead, the exact symptoms you experience will depend on the type of CHD you have. If you have a mild form of CHD, you may not have any symptoms at all. However, there are some common symptoms across all types of CHD, which may include:

• Abnormal heart rhythm
• Fatigue
• Shortness of breath, that worsens with physical activity

The most common causes of CHD are heart defects—and there are several types of heart defects. If you have a diagnosis of CHD, it's possible to have more than one heart defect. Heart defects often affect a particular area of your heart—whether that's the chambers, valves, or blood vessels. The chambers are the areas that your blood flows into. The valves are small flaps of tissue that keep your blood from flowing in the wrong direction. The blood vessels carry blood to and from your heart. 

If you have a heart defect, it's common to experience one or more of the following symptoms:

• Blu-ish colored skin, lips, or nails
• Heart murmurs, or an abnormal swoosh sound between heartbeats
• Poor blood circulation
• Rapid or fast breathing
• Increased sleepiness

Causes

There is no one cause of CHD because it is a group of problems with your heart. CHD happens because something in your heart did not develop correctly while you were in the womb. The cause depends on the exact type of abnormality you have. The cause of CHD is usually only known in about 15% of all cases. Experts believe that a combination of genetic and environmental factors may cause CHD, but the exact genes and factors are currently unknown.

Risk Factors

Research suggests that the health of the expecting parent is associated with CHD. The risk of a baby being born with CHD may increase if the expecting parent:

• Has a family history of congenital heart disease
• Smokes tobacco or drinks alcohol during pregnancy
• Develops type 2 diabetes or gestational diabetes while pregnant
• Lives with phenylketonuria, a rare disorder that affects the way your body uses protein
• Becomes infected with rubella or measles
• Take certain medicines during pregnancy such as blood pressure or acne medications

Diagnosis

Healthcare providers can diagnose congenital heart disease shortly before or right after a baby is born. All newborns undergo tests to check for heart defects. In some cases, CHD may not be diagnosed until you are an adult because you do not have symptoms until later in life. 

To test for CHD, a healthcare provider can use the following diagnostic exams:

• Fetal echocardiogram: Takes pictures and measurements of a baby's heart and blood flow, which usually takes place between 18 and 22 weeks
• Electrocardiogram (EKG): Looks at the rhythm of a baby's heartbeat
• Pulse oximetry: Measures the amount of oxygen in the baby's blood

In addition to the above tests, a provider may also conduct a physical exam, heart function assessments, and genetic testing.

Treatment

Unfortunately, there is no cure for CHD at this time. But, treatment can help manage symptoms of CHD. Your (or your baby's) treatment plan will depend on the type of heart abnormality you have and the severity of your symptoms. 

If you do not have symptoms or your symptoms are mild, you may only need to have regular check-ups with a healthcare provider or a cardiologist (a doctor who specializes in the heart). In some cases, CHD can also improve as you get older, which may limit your need for additional treatment.

In other cases, you may need medication to repair the abnormality or control symptoms. Common medications that healthcare providers prescribe are Tylenol (acetaminophen), which can help close the hole in the tissue of certain types of heart abnormalities, and Advil (ibuprofen), which may help constrict or tighten the tissue surrounding the heart defect.

For severe cases of CHD, you may require a procedure called a cardiac catheterization or even surgery. During a cardiac catheterization, a provider places a catheter (or, a thin and flexible plastic tube) into a blood vessel in the leg, which gets threaded up into your heart. Once the tube enters the heart, the tube can measure your blood flow and the pressure on your heart's blood vessels. The catheter can also help deliver medicine or tools to close or repair a defect in the heart.

If a cardiac catheterization isn't an ideal option for you, your provider may recommend heart surgery or a heart transplant. Surgery may:

• Fix the defect in your heart or blood vessels
• Replace a heart valve
• Improve blood flow by placing a device in your heart

How to Prevent CHD

Because the exact cause of CHD is often unknown, it's difficult to completely prevent CHD in your baby. But experts recommend that if you're trying to get pregnant, take these steps to lower your baby’s chances of developing CHD:

• Talk to your healthcare provider about what medications are safe to use during pregnancy
• Manage preexisting health conditions like diabetes or high blood pressure
• Quit smoking and drinking alcohol
• See a genetic counselor to find out your baby's risk of CHD, especially if you have a family history of CHD

Related Conditions

Having CHD can increase your risk of experiencing other heart conditions, such as:

• Arrhythmias (irregular heartbeats)
• Blood clots
• Pregnancy complications
• Kidney or liver disease
• Heart failure
• Cardiac arrest

A 2022 study also showed that children and young adults with CHD have an increased risk of developing cancer in comparison to people who do not have CHD. The study showed that there is a particular risk for skin cancer. The research is not clear as to why there is a specific increase in skin cancer cases. However, if you or your baby has CHD, it's a good idea to plan regular visits with your dermatologist (a doctor who specializes in the skin) in addition to your cardiologist and primary care provider.

Living With CHD

Congenital heart disease can be a difficult condition to live with. Fortunately, there are still several ways to live well with this condition. If you have a diagnosis for CHD, it's important to visit your healthcare provider and cardiologist regularly. This will help you understand the type of heart defect you have and receive appropriate treatment that helps you manage your symptoms.  

Lifestyle changes can also support you on this journey. Providers recommend participating in some physical activity regularly, eating a heart-healthy diet, getting enough sleep, and taking care of your mental health. Additionally, if you live with CHD and are trying to get pregnant, it may help to speak with a genetic counselor to understand and reduce the risk of your baby developing CHD.