C5. Congenital Heart Defects

Congenital Heart Defects

Congenital means present from birth. So, congenital heart defects refers to a number of different conditions that can occur when a baby’s heart is forming or at birth. As a result, the heart—or the major vessels in and around the heart—may not develop or work the way they should.

Congenital heart disease is the most common type of birth defect. Nearly 1 out of 100 babies are born with some sort of structural heart defect, affecting about 40,000 infants a year, according to the Centers for Disease Control and Prevention. These problems cause more deaths in the first year of life than any other birth defects. Some examples of congenital heart disease are atrial septal defect, coarctation of the aorta, and aortic stenosis.

But, there is good news. More babies are surviving thanks to advances in treating many of these problems. Although most defects are found during pregnancy by ultrasound or in early childhood, some defects aren’t discovered until adulthood. More than 1 million adults in the United States are living with congenital heart disease today.

If you or your child have a heart defect, it can be very scary. But there are a number of treatment options depending on the type of defect and the symptoms. It’s important to find a cardiologist who specializes in congenital heart defects and get support. Use this condition center to learn more about congenital heart defects. You can also chat online with others like you and keep up with the latest research.


It’s amazing to think that a baby’s heart starts developing within a few weeks into pregnancy. For expectant moms and dads, hearing the “thump, thump” of the baby’s heartbeat is a sure sign of the life that is growing inside.

The heart is a complex organ. It’s actually a muscle about the size of your child’s fist. The heart is made up of four chambers and four valves, and it works like a pump pushing nutrient- and oxygen-rich blood out to the body. If something goes awry —
even ever so slightly — when the heart is forming, it can lead to congenital heart disease: a defect in the heart that is present at birth.

There are more than 35 known types of congenital heart disease, ranging from simple to complex problems. Simple defects may involve one heart valve or a hole inside the heart. Complex issues may affect several parts of the heart and how blood is circulated. Even so-called simple conditions can sometimes be complicated.

If you or your child has congenital heart disease, it means one or more parts of the heart didn’t form normally. Congenital heart disease can affect:

  • the heart’s shape (structure)
  • how it works or
  • both

Most heart defects disrupt how blood flows through the heart and to the rest of the body, which can cause other changes in the developing heart. Heart defects can affect different parts of the heart, including:

  • the septum: inside walls of the heart
  • the valves: doors that help blood flow through the heart
  • veins and arteries
  • the electrical system, or how the heartbeat is controlled and coordinated

Heart defects range from being mild to severe.

Degree Examples
Simple Mild pulmonary stenosis, repaired ventricular or aortic septal defect
Moderate Coarctation of the aorta, Ebstein anomaly, milder forms of tetralogy of Fallot
Severe or highly complex Single ventricle disorders such as hypoplastic left heart syndrome or tricuspid atresia, transposition of the great arteries with a Mustard type of repair, any type of congenital heart disease that causes cyanosis (not enough oxygen getting to the body’s tissues), complex tetralogy of Fallot

You may worry and have concerns, but take heart. Most people born with congenital heart disease today are able to live full lives thanks to advances in medical care.

It is important that you or your child learns about his or her condition and receives lifelong specialized heart care and monitoring. Studies have linked congenital heart disease to other health problems including infections of the heart, autism, learning disabilities, and developmental and psychosocial issues.

Children with congenital heart disease are more likely to miss school and visit the hospital (3 to 4 times higher rates of visits to the emergency room). There is also financial stress on the family and, when the child reaches adulthood, uncertainty about having a family of their own. There are many resources available to help you on your journey.


In most cases, doctors don’t know why heart-related birth defects occur. Research suggests the following may play a role:

  • Our genes.At least 15% of congenital heart disease can be traced back to genes passed down from mom or dad , according to the Centers for Disease Control and Prevention . If you or your family members have been diagnosed with congenital heart disease (for example, with a bicuspid aortic valve), getting your parents, brothers, sisters, and children checked may be recommended.
  • Other genetic abnormalities.For example, half of all babies with Down Syndrome also have heart issues from birth, according to the National Heart Lung and Blood Institute.
  • Certain viruses.For example, women who get German measles (rubella) during the first three months of pregnancy have a greater chance of having a baby with a heart defect.
  • Other environmental and maternal factors. These are less understood and still being studied.

Facts and Numbers

Congenital heart disease is the most common birth defect in the U.S.

  • It affects 1 IN 100 BABIES each year in the U.S. (that’s about 40,000).
  • About 1 in 4 with a congenital heart disease will need surgery or other procedures in their first year of life.

Children born with congenital heart disease are living longer, healthier lives thanks to improved care and treatments.

  • More adults are living with congenital heart disease than kids.
  • About 9 out of 10 children born with non-critical heart defects now survive into adulthood.

Still, people with heart defects can be at increased risk for disease of other organs, such as liver or kidney disease.

For women with congenital heart disease, pregnancy can pose serious risks. Many women can have successful pregnancies, but it requires careful planning. It’s important to talk with your doctor before becoming pregnant or if you become pregnant.

Signs and Symptoms

There are many different types of congenital heart defects. How someone might feel will depend on the type of congenital heart disease.

Some congenital heart defects are so mild that you or your child may not have any symptoms until later in life. More severe types of congenital heart problems are often detected while the baby is still in the womb or within the first few weeks of life .

Some signs and symptoms may include:

  • Low levels of oxygen in the blood (nurses test for this within the first 24 hours of a baby’s life)
  • Bluish color to the skin, lips or nail beds (called cyanosis)
  • Heart murmur
  • Palpitations (when your heart feels like it’s skipping beats)
  • Rapid breathing or difficulty breathing
  • Tiring very easily (for babies, even when feeding difficulty)
  • Poor weight gain
  • Poor blood circulation
  • Fewer wet diapers
  • Babies or kids with congenital heart disease may not get as big or gain weight as they should

Call your doctor right away of you or your child notice any of these symptoms.

Challenges Ahead

Children with congenital heart disease may:

  • struggle with anxiety (anxiety and depression are far more common in people with chronic diseases, including congenital heart disease)
  • not grow as expected or may develop other health problems related to frequent hospital stays or surgeries
  • have kidney or liver damage because of poor blood flow through the body
  • develop learning and developmental disorders including ADHD; spatial and reasoning skills may also be impaired
  • have greater risk of heart problems with pregnancy
  • develop other heart diseases later in life, including problems with how the heart beats
  • feel different from other kids given the burden and focus on health issues; for those who’ve had surgeries, their scars may make them feel excluded or different from their peers

It’s important to have patience. Serve as an advocate for your child, and help teach him or her the skills to manage the condition and speak up to assure they get the care they need.

Exams and Tests

Several tests can be used to help determine whether a baby or child has a congenital heart disease. These may include:

Fetal echocardiogram (during pregnancy): This test shows moving pictures of a baby’s heart and how it is working as early as 16-18 weeks into pregnancy. It is usually used if congenital heart disease runs in your family, or if there are other factors that make a heart problem more likely.

Pulse oximetry: This simple and painless test measures how much oxygen is in the baby’s blood. In many states, it is a standard screening test for newborns to help detect possible problems.

After a full physical exam and if a heart issue is suspected, other tests may be ordered for the baby or child and may include:

  • Echocardiogram
  • ECG
  • Chest X-ray
  • Cardiac catheterization
  • Cardiac stress test

A pediatric or fetal cardiologist is in the best position to diagnose a congenital heart defect and recommend treatment.


What treatment your child might receive depends on several factors. For example:

  • type of heart defect
  • how severe it is
  • your child’s age
  • his or her general health

Your child’s heart team should talk with you about treatment options and what to expect. Always share any concerns and what matters most to you.

Treatment may include a combination of:

  • Medications to help the heart work better, lower blood pressure or cholesterol and manage symptoms until the heart defect is repaired.
  • Cardiac catheterizationto look for or fix the problem (for example, to repair a hole or place a new valve). In this procedure, a long, thin, flexible tube is threaded through a blood vessel into the heart and gives doctors access to the heart.
  • Devices that are placed or implanted in the heartto control heart rate or address life-threatening heart rhythms.
  • Open heart surgeryto repair the heart or help improve blood flow by widening arteries or closing blood vessels.
  • Heart transplant, in rare cases.
  • Self-care at homeand ongoing follow-up for the condition.

Remember, even if your child has a surgery to fix a heart defect, he or she may need more procedures down the line.

Having congenital heart disease also means you are more likely to develop other heart issues later in life. That’s why you or your child needs ongoing care by a doctor who has special training in congenital heart disease. For example, they can help you and your child navigate issues such as:

  • Understanding, preventing and monitoring heart problems that can develop as you age — issues with how your heart beats (arrhythmia), an enlarged heart, leaky or narrowing heart valves, heart failure, heart infections, pulmonary hypertension
  • Pregnancy/birth control/sexuality
  • Stress and coping
  • Psychosocial issues

Living With Congenital Heart Defects

Many children born with heart problems face challenges, including other health problems that need to be managed. Here are some tips to help you and your child along the way.

  1. Find a heart team with expertise in managing congenital heart disease.

In most cases, your child will need lifelong monitoring and care, even if he or she feels well. Your daughter will, at some stage, need to understand the risks of pregnancy and the need for careful planning and monitoring.

  1. Understand your child’s heart defect and ask lots of questions.

Find out what it means for your child’s health now and in the future. Learn about what your child should do to stay healthy and prevent complications.

  1. Stay organized.

Keep a complete and easy-to-follow summary of:

  • The type of heart defect and when it was first diagnosed
  • Every test, procedure and surgery performed, along with dates and the name of the ordering doctor and facility
  • Medications your child took in the past and takes now, and for what purpose
  • Results from cardiac imaging or blood tests
  • Other conditions, such as allergies
  • Follow-up appointments or upcoming echocardiogram or other tests
  1. Don’t skip health checkups or tests.

Even if your child seems to be doing well, follow-up doctor visits are key to staying ahead of any problems. As your child moves into adulthood, they will need to continue to have regular follow-up.

  1. Lifelong congenital cardiac care is essential.

It will be important for your child to find the right team at each stage of life and to feel confident in the team’s understanding of the specific defect and how to manage it. This includes readying your child to transition to an adult congenital heart specialist when the time is right.

  1. Teach your child to stay in tune with his or her body.

Children with heart defects need to feel comfortable sharing any changes in how they feel with their heart team and other health care professionals. As a parent, it’s important to keep an eye on your child’s physical abilities; for example, how well they keep up with other kids or if you notice a change in what they can do.

  1. Help your child adopt heart-healthy habits early on.

This includes eating well, getting appropriate exercise, not smoking, and managing and reducing stress.

  1. Learn how to manage the anxiety that often comes with having a heart defect.

Anxiety and feelings of uncertainty are very common among people with congenital heart disease. It affects families too. Developing coping strategies early in life is important.

  1. Find emotional support.

Living with a chronic disease, especially from birth, can be stressful. Make sure to tap into support groups or find families who have a child with a similar condition to talk to and share experiences.

  1. Stay positive and keep an open mind.
  • More adults are living with congenital heart disease than ever before, thanks to significant medical advances. Technologies and treatments are continually improving, so for many, the future is bright.