Adults With Congenital Heart Disease

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. Worldwide, 1 in 100 babies are born with some type of congenital heart disease.

Even though congenital heart disease is traditionally considered a childhood condition, advances in surgical treatments allow more than 90% of the babies to survive well into adulthood in the United States.  In fact, in the US, adults represent the majority of patients with congenital heart disease.

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 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.

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	Any of the 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

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% 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?

Helpful resources

To learn more about congenital heart disease, visit CardioSmart’s condition center. In addition to these resources, you can find out more at:

Adult Congenital Heart Association
www.achaheart.org

Little Hearts
www.littlehearts.org

Mended Little Hearts
www.mendedhearts.org/about-us/about-mended-little-hearts

National Library of Medicine
www.medlineplus.gov search "congenital heart disease"