What are congenital heart defects?
Congenital heart defects (CHDs) are problems with the structure of the heart. "Congenital" means that that the problems are present at birth. These defects happen when a baby's heart doesn't develop normally during pregnancy. Congenital heart defects are the most common type of birth defect.
Congenital heart defects can change the way the heart pumps blood. They may make blood flow too slowly, go the wrong way, or block it completely.
There are many types of congenital heart defects. They can happen in one or more parts of the heart. The most common types are:
- Septal defects ("hole in the heart") - openings in the wall between the left and right sides of the heart
- Heart valve defects - problems with the valves that control the flow of blood through the heart
- Defects in the large blood vessels that carry blood in and out of the heart
Congenital heart defects can range from very mild problems that never need treatment to life-threatening problems at birth. The most serious congenital heart defects are called critical congenital heart disease. Babies with these defects usually need surgery in the first year of life. But the symptoms of milder heart defects may not show up until childhood or adulthood.
What causes congenital heart defects?
Researchers often don't know what causes congenital heart defects. They do know that changes in a baby's genes sometimes cause a heart defect. The changed genes may come from the parents, or the changes may happen during pregnancy.
Who is more likely to have a baby with a congenital heart defect?
Several things may increase the chance that your baby has a congenital heart defect, such as:
- Your health before and during pregnancy, including
- Having diabetes before pregnancy or developing it in the first 3 months of pregnancy (diabetes that develops later in pregnancy isn't a major risk for heart defects). Carefully controlling your blood sugar before and during pregnancy can lower your baby's risk of congenital heart defects.
- Having phenylketonuria (PKU), a rare inherited disorder that affects how the body uses a protein in foods. If you have PKU, eating a low-protein diet before getting pregnant can lower your baby's risk of having a congenital heart defect.
- Having rubella (German measles) during pregnancy.
- Your contact with certain substances during pregnancy, including
- Smoking or secondhand smoke (breathing smoke from another smoker).
- Certain medicines, such as angiotensin-converting (ACE) inhibitors for high blood pressure and retinoic acids for acne. If you're pregnant or plan to get pregnant, talk with your health care provider about all the medicines you take.
- Your family history and genetics. In most cases, congenital heart defects don't run in families. But your chance of having a baby with a congenital heart defect does go up if you or the other parent has a congenital heart defect, or if you already have a child with a congenital heart defect.
What are the symptoms of congenital heart defects?
Congenital heart defects don't cause pain. The signs and symptoms are different, depending on the type and number of defects and how serious they are.
Common signs and symptoms of congenital heart defects include:
- Cyanosis - a bluish color to the skin, lips, and fingernails. It happens when there isn't enough oxygen in the blood
- Fatigue - your baby may be unusually sleepy and may become very tired during feedings
- Poor blood flow
- Fast or difficult breathing
- Heart murmur - an unusual sound between heartbeats
What other problems do congenital heart defects cause?
Congenital heart defects don't always cause other problems. If they do, which problems you have would depend on the type and number of defects and how serious the defects are.
Children with congenital heart defects are more likely to:
- Be smaller than other children
- Have problems or delays in mental, and emotional growth, and behavior, such as:
- Speech and language problems
- Attention deficit hyperactivity disorders (ADHD)
People with congenital heart defects may develop other health conditions, including:
- Endocarditis - an infection of lining of the heart and valves
- Arrhythmia - a problem with the rate or rhythm of your heartbeat
- Heart failure - when your heart can't pump enough blood to the body
- Pulmonary hypertension - high blood pressure in your lungs
- Kidney and liver disease
How are congenital heart defects diagnosed?
- Before a baby is born, your provider may use ultrasound pictures of the baby's heart to look for heart defects. This is called a fetal echocardiogram. It's done between weeks 18 and 22 of pregnancy.
- During the first few days after birth, all newborns are checked for congenital heart defects. A pulse oximeter is clipped to your baby's hands or feet to measure blood oxygen. If it shows low levels of blood oxygen, more tests will be needed to find out if your baby has a heart defect.
- To diagnose congenital heart defects in babies, children, and adults, a provider may use many tools, including:
- A physical exam.
- Certain heart tests to see how the heart is working.
- Genetic testing to see if certain gene problems caused the defect.
What are the treatments for congenital heart defects?
Treatment depends on the type of congenital heart defect and how serious it is. Possible treatments include:
- Cardiac catheterization to repair simple defects, such as a small hole in the inside wall of the heart. A catheterization uses a thin tube guided through a vein and into the heart.
- Heart surgery may be needed to:
- Repair defects in the heart and blood vessels.
- Repair or replace a heart valve.
- Place a device in the chest to help the heart pump blood.
- Do a heart transplant.
- Medicine is often used if your baby has a specific type of congenital heart defect called patent ductus arteriosus.
All children and adults who have congenital heart defects need regular follow-up care from a cardiologist (a doctor who specializes in heart diseases) throughout their life, even if their defect was repaired.
Some people may need several heart surgeries or catheterizations over the years. They may also need to take medicines to help their hearts work as well as possible.
NIH: National Heart, Lung, and Blood Institute
What are heart valve diseases?
Heart valve disease happens when one or more of your heart valves don't work well.
Your heart has four valves: the tricuspid, pulmonary, mitral, and aortic valves. The valves have flaps that open and close. The flaps make sure that blood flows in the right direction through your heart and to the rest of your body. When your heart beats, the flaps open to let blood through. Between heartbeats they close to stop the blood from flowing backwards.
If one or more of your heart valves doesn't open or close correctly, it can affect your blood flow and strain your heart. Fortunately, treatment helps most valve diseases.
What are the types of heart valve diseases?
Heart valves can have three basic kinds of problems:
- Regurgitation, or backflow, happens when the flaps of a valve don't close tightly. This allows the blood to leak backwards. A common cause of regurgitation is prolapse, where the flaps of the valve flop or bulge back. Prolapse most often affects the mitral valve.
- Stenosis happens when the flaps of a valve become thick, stiff, or stuck together. This prevents the heart valve from opening all the way. Not enough blood can pass through the valve. Aortic valve stenosis is a common type of stenosis. It affects the valve that controls blood flow into the large artery that carries blood out of the heart to the body.
- Atresia happens when a heart valve did not form properly and does not have an opening for blood to pass through.
Sometimes a valve can have both regurgitation and stenosis.
What causes heart valve diseases?
Some people are born with heart valve disease. This is called congenital heart valve disease. It can happen alone or along with other congenital heart defects. Heart valve disease can also develop over time as you get older or have certain conditions that affect the heart.
Who is more likely to develop heart valve diseases?
Your chance of having heart valve disease is higher if:
- You are older. With age, the heart valves can become thick and stiff.
- You have or have had other conditions that affect your heart and blood vessels. These include:
- Rheumatic fever. An untreated strep throat can become rheumatic fever, which can harm the heart valves. The damage may not show up for years. Today, most people take antibiotics to cure strep throat before it can cause heart valve damage.
- Endocarditis. This is a rare infection in the lining of the heart and heart valves. It is usually caused by bacteria in the bloodstream.
- A heart attack.
- Heart failure.
- Coronary artery disease, especially when it affects the aorta (the large artery that carries blood from the heart to the body).
- High blood pressure.
- High blood cholesterol.
- Diabetes.
- Obesity and overweight.
- Lack of physical activity.
- A family history of early heart disease:
- A father or brother who had heart disease younger than 55.
- A mother or sister who had heart disease younger than 65.
- You were born with an aortic valve that wasn't formed right. Sometimes this will cause problems right away. Other times, the valve may work well enough for years before causing problems.
What are the symptoms of heart valve diseases?
Many people live their whole lives with a heart valve that doesn't work perfectly and never have any problems. But heart valve disease may get worse slowly over time. You may develop signs and symptoms, such as:
- Shortness of breath (feeling like you can't get enough air)
- Fatigue
- Swelling in your feet, ankles, abdomen (belly), or the veins in your neck
- Chest pain when you're physically active
- Arrhythmia, a problem with the rate or rhythm of your heartbeat
- Dizziness or fainting
If you don't get treatment for heart valve disease, the symptoms and strain on your heart may keep getting worse.
What other problems can heart valve diseases cause?
When the valves don't work well, your heart has to pump harder to get enough blood out to the body. Without treatment, this extra workload on your heart can lead to:
- Heart failure
- Stroke
- Blood clots
- Sudden cardiac arrest or death
How is heart valve disease diagnosed?
Your health care provider may listen to your heart with a stethoscope and hear that your heart makes abnormal sounds, such as a click or a heart murmur. These sounds may mean a valve isn't working normally. The provider will usually refer you to a cardiologist, a doctor who specializes in heart diseases.
The doctor will also listen to your heart and will do a physical exam. You will also likely need to have one or more heart tests.
What are the treatments for heart valve diseases?
Most heart valve problems can be treated successfully. Treatment may include:
- Medicines to control your symptoms and keep your heart pumping well
- Heart-healthy lifestyle changes to treat other related heart conditions
- Surgery to repair or replace a valve
It's possible that you may need surgery, even if you don't have symptoms. Fixing the valve can help can prevent future heart problems.
There are many ways to do heart valve surgery. You and your doctor can decide what's best for you, based on your valve problem and general health. Heart valve repair surgery has fewer risks than heart valve replacement. So, when repair is possible, it's preferred over valve replacement.
In some cases, valve replacement is necessary. There are 2 types of replacement valves:
- Biologic valves made from pig, cow, or human tissue. These valves tend to wear out after 10 to 15 years, but some may last longer.
- Mechanical (human-made) valves usually don't wear out. But with a mechanical valve, you usually have to take blood thinners for the rest of your life to prevent blood clots. And your risk of endocarditis (a heart infection) is higher than with a biologic valve.
NIH: National Heart, Lung, and Blood Institute