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What Is Congenital Heart Disease?


Congenital heart disease is a medical issue resulting from a congenital heart defect, a malformation of the heart present from birth. Depending on the exact issues involved, congenital heart disease might only cause minor issues. On the other hand, more serious kinds of congenital heart disease can cause life-threatening problems from infancy.

Congenital heart defects, which can occur alone or with other medical problems, are one of the most common kinds of birth defects. In the United States about 1% of babies are born with a congenital heart defect. Of these, about 25% have critical, life-threatening congenital heart disease.1 Congenital heart disease occurs in males slightly more often than in females.

Baby cardiologist

Types of Congenital Heart Disease

Congenital heart defects are characterized by the specific issues involved, which influence symptoms and available treatments. The problem might affect the left or right ventricle (the heart’s large pumping chambers) or the ventricular wall that divides the two.

Other types of problems might affect the atria (the left and right chambers of the heart where the blood first fills up) or the atrial wall between them. Some problems affect the large vessels connected to the heart, such as the aorta.

Other problems affect one or more of the four valves that normally prevent blood flowing back the wrong direction. In some cases, a person with congenital heart diseases has multiple types of problems with their heart anatomy.

Broadly, congenital heart defects are often distinguished into one of two categories: cyanotic and noncyanotic defects.

Cyanotic Defects

Congenital heart disease from a cyanotic defect is more severe. In these individuals, the body isn’t receiving enough blood rich in oxygen. Because of this, the skin, lips, and nails may develop a bluish tinge (cyanosis), at least under certain circumstances. It is also sometimes called critical congenital heart disease, because of its serious nature.

Five of the most common types of cyanotic congenital heart disease are:

Tetralogy of Fallot

Truncus arteriosus

Transposition of the great arteries

Tricuspid valve atresia

Total anomalous pulmonary venous return (TAPVR)2

Noncyanotic Defects

Defects categorized as noncyanotic (or acyanotic) are less severe, though they can still have serious health consequences, especially if untreated. In these conditions, the blood that goes out to the body is still receiving lots of oxygen-rich blood, at least most of the time. So a bluish tint to the skin is seen less commonly.

Some common types of noncyanotic defects are:

Ventricular septal defect

Atrial septal defect

Atrioventricular septal defect

Patent ductus arteriosus

Coarctation of the aorta

Aortic valve stenosis

Pulmonary valve stenosis3

Congenital Heart Disease Symptoms

Some potential symptoms of congenital heart disease in infancy include:

Decreased activity and lethargy

Sweating and crying during feeding

Poor weight gain

Irregular or rapid breathing

Bluish discoloration to the skin (cyanosis)

Heart murmur heard on medical exam4

However, it’s important to note that not all infants with congenital heart disease will have these symptoms. Infants born with less severe disease may not have any symptoms at first. Symptoms might become apparent later in childhood, such as shortness of breath or heart palpitations during exercise.

Because of the way the circulation of blood works in the fetus, congenital heart disease does not usually cause problems before birth.


Congenital heart disease occurs when the heart and related structures do not form normally during pregnancy. This causes problems, because the heart can’t pump out oxygenated blood to the body and pump blood full of carbon dioxide back to the lungs as well as it normally would.

In Genetic Syndromes

Sometimes, congenital heart disease occurs as part of genetic syndromes. For example, about half of people with trisomy 21 (which causes Down syndrome) have congenital heart disease. Congenital heart disease can be caused by other genetic syndromes, such as trisomy 13, trisomy 18, Turner syndrome, and DiGeorge syndrome.5

In these cases, the genetic abnormalities lead directly to the issues with the heart’s formation. These individuals often have problems related to other body systems, like the nervous system.

Potential Risk Factors

Most of the time, however, congenital heart disease doesn’t have an obvious cause. It probably happens because of a mix of genetic and environmental causes. Having variations of certain genes may put certain infants at risk of congenital heart disease.

Likewise, certain environmental situations may slightly increase the risk. Some of these potential factors are:

Maternal smoking


Environmental toxin exposure

Viral illness during pregnancy

Low folate levels in the mother6

It’s important to note that most babies born with congenital heart disease are born without any obvious risk factors. Still, for parents who have had one child born with congenital heart disease, it may be helpful to meet with a genetic counselor. This individual can provide more detailed information about the potential risks of having another child with congenital heart disease.


Some infants with congenital heart disease come to medical attention right away. This is particularly true for infants with cyanotic disease, who may have more obvious signs of a problem.

In this case, physicians start putting together signs from the medical history, physical exam, laboratory tests, and imaging tests to make a diagnosis. Through this process, medical professionals rule out other possible causes, like lung disease, infection, or certain rare genetic syndromes.

However, some infants with congenital heart disease might not have any symptoms right away. In the U.S., most states screen for congenital heart disease when the newborn is in the hospital. This is commonly done with a pulse oximeter, which detects the amount of oxygen present in the blood. This test helps identify infants who may have treatable congenital heart disease.1

If a clinician suspects a problem, either from symptoms or from such a screening test, further medical workup is needed. An electrocardiogram (ECG) can help identify certain heart abnormalities, like heart rhythm problems that might be caused by congenital heart disease.

Imaging tests are critical if problems are suspected. Early imaging tests might include chest X-ray and echocardiogram.7 Additional, more detailed imaging tests may be needed if a problem is found. Some possibilities are:

Cardiac catheterization and angiography7

Computerized tomography (CT)

It’s especially important that infants with critical heart defects be diagnosed quickly, because early diagnosis may decrease the risk of death and complications.

Fetal Diagnosis

Sometimes, the first sign of congenital heart disease is discovered during a prenatal ultrasound, such as the one given at around 20 weeks.8 Fetal echocardiogram can provide more information about the nature of the problem.


The treatment of congenital heart disease can be separated by age of the person affected.

Infants and Children

Treatment will vary based on the severity of the congenital heart problem. Children with severe defects may need initial stabilizing treatment. For example, this may include oxygen therapy. Another common treatment is prostaglandin E1.2

When given shortly after birth, this therapy temporarily prevents the normal closing of a specific blood vessel important for fetal circulation. For an infant with congenital heart disease, keeping this blood vessel available can help the heart get more oxygen-rich blood out to the body.

Procedures and Surgery

Infants born with severe congenital heart disease will ultimately need some sort of surgery or other medical procedure, sometimes more than one. Through these surgeries, the heart (and affected vessels and/or valves) are reshaped so that they can do their normal work, pumping oxygenated blood to the body and pumping blood full of carbon dioxide to the lungs.

It’s important to note that it might not be possible to restore the heart to completely normal function, even after successful surgery. The exact nature of the surgeries and procedures needed will vary based on the severity and type of congenital heart disease.2

Usually, these surgeries are most effective if they are done early in childhood, but sometimes they are not needed until later in life. Though often life-saving, surgery is often a very dangerous time for these young children, and some of them do die from surgical complications.

Heart Transplantation

A surgical correction isn’t possible for some types of very rare and severe congenital heart disease. In these cases, heart transplantation in early childhood may be the only viable option.9

Some types of congenital heart disease can be treated with catheter type treatments. These procedures don’t require surgeons to open the chest to access the heart. Instead, tools are inserted via large blood vessels, such as those in the legs, and then threaded through the vessel to the heart. Using very small tools and special cameras, certain types of congenital heart defects can be repaired in this fashion.3

Individuals with less severe disease don’t usually require treatment as urgently. The timing and type of this treatment will vary based on the severity and specific congenital defect involved.

After a successful procedure or surgery, many people with congenital heart disease can lead near-normal lives. Some people still experience some residual symptoms, such as reduced ability to exercise, even after optimal treatment.

Treatment in Adults

Surgical treatments have improved dramatically over the years. With current treatments, more than 90% of children born with congenital heart disease will reach adulthood, and currently two out of three people with congenital heart disease are adults.10

Most of these individuals will continue to need to continue to see a cardiologist for specialized care. That’s because they still have an increased risk of certain medical problems, even if they’ve already had surgery.

Sometimes, the heart defect is too severe to be completely corrected. The heart may have undergone stress and damage that can’t be fully fixed with surgery. Scar tissue from surgery can cause other issues.

Though most of these children grow up without a lot of severe physical limitations, they are never completely “cured” of congenital heart disease. Sometimes this is called GUCH, for grown-up congenital heart disease.

Complications in Adults

A key issue is the increased risk of abnormal heart rhythms.11 While some of these rhythms don’t cause major problems, other types are life-threatening and may cause sudden death.

Heart failure is another big concern. This can lead to increased problems with shortness of breath and even death if not treated. Other problems are also possible, including endocarditis (infection of a heart valve), pulmonary hypertension (increased pressure in the blood vessels of the lungs), and stroke.10

The specific risks of these issues vary based on the specific type of congenital heart disease and the treatment received. Treatment will vary based on the type of problems that come up.

Some medications may be able to reduce work on the heart and decrease symptoms. This might include medications to lower blood pressure and medications that work as diuretics.

Some other potential interventions are:

Surgical repair for heart failure

Heart transplantation for severe heart failure

Defibrillators to correct abnormal heart rhythms

Antibiotics for endocarditis10

Some people with congenital heart disease also need to take antibiotics before having certain medical and dental procedures, to reduce the risk of endocarditis.