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.

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.

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.

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.

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 catheterization to 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 heart to control heart rate or address life-threatening heart rhythms.
• Open heart surgery to repair the heart or help improve blood flow by widening arteries or closing blood vessels.
• Heart transplant, in rare cases.
• Self-care at home and ongoing follow-up for the condition.

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

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.
2. 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.
3. 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
4. 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.
5. 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.
6. 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.
7. Help your child adopt heart-healthy habits early on.
   This includes eating well, getting appropriate exercise, not smoking, and managing and reducing stress.
8. 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.
9. 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.
10. 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.

If you are an adult with congenital heart disease, we have more tips.

Congenital heart disease (also called congenital heart defects) occurs when there is a problem with the heart that is present at birth. It can affect the heart’s shape, how it works or both.

Even though congenital heart disease is traditionally considered a childhood condition, advances in surgical treatment mean that babies who once might have died are now surviving well into adulthood. About one out of every 100 Americans are born with some type of congenital heart disease in which some part of the heart doesn’t form properly.

Whether you’ve been living with a congenital heart defect for as long as you can remember, or only recently became aware of your condition, it’s important to stay positive and take an active role in your care. People with congenital heart defects face unique challenges, and a greater chance of heart problems down the line. Lifelong care is essential in most cases. Make sure to find a heart team with special training in adult congenital heart disease to help monitor your heart health.

About congenital heart disease

Congenital heart disease is the most common birth defect.

There are at least 35 known types of heart defects. They range from relatively minor issues to complex, life-threatening problems. Some heart defects do not need any immediate treatment, while others may require extensive surgeries and hospital stays.

Congenital heart defects can affect different parts of the heart—for example:

• the wall in between the right and left sides of the heart (septum)
• any of the heart’s valves that open and close to control blood flow to and from the heart
• the veins or arteries that carry blood to the heart or the body
• the electrical system of the heart

There often isn’t normal blood flow through the heart as a result.

Thriving with Congenital Heart Disease

“Most people born with congenital heart defects are now living well into adulthood and leading productive and fulfilling lives. Yet some were told they wouldn’t be alive as adults,” said Elisa Bradley, MD, of the Ohio State University & Nationwide Children’s Hospital in Ohio.

For the first time, more adults are living with congenital heart disease than children. All told, 9 out of 10 children born with a heart defect now survive into adulthood thanks to advances in surgical techniques and better medical care in general.

Childhood deaths linked to congenital heart disease dropped by nearly 60% from 1987 to 2005. What’s more, the greatest improvements appear to be among people with the worst types of congenital heart disease.

What causes congenital heart disease?  

How heart defects develop in the first place is still unclear. Most people living with congenital heart disease will never know what caused it.

Heart defects are likely due to multiple factors, including:

• Changes in the normal development of the embryo—the earliest stages of growth when the heart and other structures are beginning to form
• Genetics—changes in certain genes or chromosomes that are linked to heart issues and may be passed on by parents

A woman’s health or medication use during pregnancy may also play a role, though this is less well understood. There is some research to show that smoking or having German measles (rubella) or uncontrolled diabetes while pregnant may affect the developing heart.

But as Dr. Bradley cautions, “It probably has less to do with the maternal environment and exposures than it does to what I would call a complex interaction between genetic abnormalities and changes in the embryo.” In many cases, this leads to disruption of normal heart development; for instance, abnormal embryologic folding of the heart’s tube structure, where being “off” by just a few millimeters can significantly change the type and severity of congenital heart disease, she explained.

What are the signs and symptoms?

How someone might feel depends on their specific heart defect and how severe it is, among other factors.

Infants with a heart defect may be in distress at birth or within a few days after birth because the heart cannot pump enough blood to the rest of the body. Some have been called “blue babies” because of the bluish color of their skin or fingernails; this happens when there are low levels of oxygen in the blood.

However, some individuals born with mild forms of heart defects may not develop symptoms until adulthood and so don’t find out about their condition until later in life. They might learn about their condition by chance. For example, a doctor may order a test to look for something else entirely, and the results happen to show a problem in the heart such as a small hole or valve problem.

If you are not diagnosed until you are an adult, some common signs and symptoms include:

• low levels of oxygen in the blood
• heart palpitations (when your heart feels like it’s skipping beats)
• shortness of breath
• not being able to exercise the way you used to (called exercise intolerance)
• tiring very easily
• signs of heart failure (such as swelling, waking up short of breath)

How is it diagnosed?

Most of the time, congenital heart defects are detected when the baby is still in the mom’s womb or shortly after birth. However, some people learn about their condition as adults.

During a routine medical appointment, your health care provider listens to your heart with a stethoscope. If your provider suspects there might be a problem, he or she may order an exercise test, electrocardiogram, echocardiogram, or other advanced imaging tests to look at your heart.

How are congenital heart defects treated?

Treatments for congenital heart disease vary. Your treatment will depend on your specific heart defect, if you are having symptoms, previous therapies and other health issues.

About 1 in 4 babies with complex congenital heart disease need surgery or other procedures within their first year of life; others may not need a procedure until later in childhood or adulthood. Sometimes, for very simple defects, no treatment may be needed, but appropriate follow up with an adult congenital cardiologist is important.

In the past, open heart surgery was the only option if the problem needed to be corrected. Today, there are less invasive (percutaneous) techniques, as well as different stents, valves and closure devices that are available as options, depending on the underlying issue.

“The landscape of treatment for congenital heart disease is changing,” Dr. Bradley said. “Even 20 to 30 years ago almost everything required an open surgical procedure, but this is an exciting time for congenital heart patients, where percutaneous procedures and device placement are rapidly advancing options for this population.”

Treatment options generally include:

• repair through open chested surgery or less invasive catheter-based procedures and devices
• adopting healthy lifestyle habits upon evaluation by a cardiologist
• medications to make the heart pump better or treat symptoms of heart failure
• cardiac rehabilitation, if you are eligible
• heart transplant

Ongoing medical care throughout your life by providers that understand congenital heart disease is critical.

Common challenges 

People living with congenital heart disease face ongoing challenges.

Even if you have been told your heart defect has been “fixed” or repaired, you can develop other cardiac problems over time including:

• issues with how your heart beats (arrhythmias)
• an enlarged heart
• leaky or narrowed heart valves
• heart failure
• heart infections (endocarditis)
• pulmonary hypertension (when blood flows into the lung, increasing pressure)

People with most types of congenital heart defects need continued and careful monitoring as adults. Many will need additional procedures or medications as adults, and repeat imaging of the heart is often needed. Yet only about 10 percent of adults get the recommended care they need, according to the Adult Congenital Heart Association.

“Just because you feel well doesn’t mean that you don’t need to see a cardiologist with advanced training in congenital heart disease,” Dr. Bradley said. “It’s important to have someone watching you because—as with most things in cardiology—usually the reason for intervention is either that you have worsening symptoms or we see [something] on follow-up testing that [if left untreated] will further damage your heart.”

People born with heart problems are also living long enough to develop other health problems. For example, it is important to keep tabs on and control other risk factors for heart disease such as diabetes, blood pressure, smoking, being overweight and not leading an active lifestyle.

Congenital heart disease is also linked to anxiety, depression, post-traumatic stress disorder and psychosocial stress. Not surprisingly, people worry about finding a job, getting and keeping health and life insurance, discussing their condition with peers, finding a life partner, having a family, paying for medical care, and being a burden on their family. Ongoing care often means more testing, surgeries and procedures, which can boost anxieties.

Finally, navigating the health care system and transitioning from a pediatric cardiologist to one specializing in adults with congenital heart disease isn’t always easy. Adult congenital heart disease is a relatively new subspecialty in medicine. Some people may not have easy access to this type of doctor. It’s important to keep detailed files of all your medical records.

Women with congenital heart disease also need expert advice on whether it’s safe to become pregnant, as well as the best options for birth control. Advances in medical care mean many women can expect a successful pregnancy, but for others it may be too dangerous. Pregnancy and the changes that occur in a woman’s body can be the ultimate stress test on the heart. That’s why careful evaluation and monitoring is often needed for women with existing heart issues.

Talking with your health care team

Your heart team knows what’s best in terms of supporting your heart health. Learn all you can about your congenital heart defect, and share any concerns or questions with your health care team.

Here are some questions you might want to ask:

• Can you tell me about my congenital heart disease?
• How often do I need to be seen for follow-up appointments? What about echocardiograms and other testing?
• What is my risk for heart problems over time?
• What symptoms should I watch for?
• Will I need another procedure or repair?
• What types of exercise are best?
• What else can I do to stay healthy?
• Is it safe for me to get pregnant?
• What resources do you recommend for people living with congenital heart defects?
• Do my children need to be worried or more closely screened for heart problems? What about genetic testing and counseling?
• Is there someone who has this condition who I can speak with, or perhaps a support group that might help?
• Are there resources to help me pay for ongoing care?