A congenital heart defect (CHD) is the most common form of congenital heart disease. It is also one of the most common and potentially severe birth abnormalities.

A CHD is a difference in the structure of the heart or a main artery. A person is born with it, and in the United States, nearly 1% of babies are born with a CHD each year.

This type of abnormality can obstruct blood flow in the heart or nearby vessels, or it may cause blood to flow through the heart irregularly.

In the past, it was common for CHDs to cause health issues that proved fatal, but medical and technological advances mean that most people with these differences survive into adulthood. Each person’s outlook depends on the severity of their CHD.

Children who undergo treatment for CHDs should continue to have follow-up monitoring throughout adulthood. Those with complex health needs might require lifelong specialized care.

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Doctors classify CHDs depending on the part of the heart most affected. The most common type is a ventricular septal defect. This involves the wall between the heart’s two ventricles never fully developing in utero, leaving a gap.

There are also different types of congenital heart disease. It may be “cyanotic,” in which case an abnormality causes low blood oxygen levels.

Infants with cyanotic congenital heart disease experience breathlessness, fainting, and fatigue, and they may have bluish toes, fingers, and lips.

Alternately, the disease can be “acyanotic.” In this case, there is enough oxygen in the blood, but the heart does not pump the blood around the body effectively.

Certain types of CHD can lead to blood pressure that is higher than usual. This is because the heart must work harder to pump blood, which can weaken it.

Specifically, there may be high blood pressure in the arteries of the lungs, an issue called pulmonary hypertension, which can lead to breathlessness, fatigue, dizziness, and fainting.

Cyanotic heart disease may cause:

Acyanotic heart disease may cause:

  • breathlessness, especially during physical activity
  • sweating, especially during feedings
  • a slow growth rate and a low body weight
  • difficulty feeding and poor appetite, in infants
  • extreme tiredness
  • chest pain

There may be no symptoms soon after birth — these may only arise as a child grows older, and they may need treatment.

A CHD usually develops during the early stages of development.

There is a higher risk if the pregnant person:

  • has rubella, or German measles
  • has diabetes, including gestational diabetes, that is not managed well
  • takes certain medications, such as isotretinoin (Accutane), a medication mainly for severe acne
  • consumes large amounts of alcohol

Genetics may also play a role. At least 15% of people with a CHD also have a genetic disorder. Some genetic disorders may increase the risk of having a CHD.

Tests can show heart problems such as CHDs before and after birth.

Before birth

Routine ultrasound scans during pregnancy can give information about the structure of the fetal heart.

If the scan indicates a problem, fetal echocardiography can help show a CHD. This is like an ultrasound scan, but it can collect more detailed information about the heart’s chambers.

After birth

A newborn with cyanotic congenital heart disease tends to have recognizable symptoms, but those of acyanotic congenital heart disease may not appear until the child is 3 years old or older.

Seek medical advice if a child of any age has any symptoms of congenital heart disease, including breathlessness or difficulty feeding.

A physician typically assesses heart activity using an electrocardiogram, an echocardiogram, or both.

Echocardiography is an imaging technique that usessound waves to create a moving image of the heart. It shows the heart’s size and shape and how well the chambers and valves are working.

This technique can show areas of low blood flow and any part of the muscle that is not contracting effectively. It can also show whether the heart muscle has sustained any damage due to low blood flow.

An electrocardiogram, or ECG, provides information about the heart’s electrical activity, including the rhythms and the size of the chambers.

An X-ray can show any enlargement of the heart and whether there is too much blood in the lungs.

Pulse oximetry, meanwhile, measures the levels of oxygen in the blood of the arteries through a sensor placed on the fingertip, ear, or toe.

Children and adults can have these tests.

Adults may also need to do an exercise stress test. This involves exercising on a treadmill while a health professional measures blood pressure and heart activity.

According to the Centers for Disease Control and Prevention (CDC), around 1 in 4 infants with a CHD have an abnormality that is critical and requires surgery during their first year of life.

In other cases, the symptoms improve without treatment or the abnormality is small and does not need treatment. The doctor may recommend watchful waiting to determine whether medication or surgery is necessary.

A person with a CHD may need treatment, such as medication to lower blood pressure, at any age.

Surgery

A surgeon may correct the CHD through a catheter or an open heart procedure.

The specific approach depends on the CHD. Options include:

Specifically, the surgeon may use a balloon valvuloplasty to repair a valve. This involves passing a small balloon through a catheter and inflating it to widen the valve. A stent or metal coil can then stop the valve from narrowing again.

In adulthood

After surgery, the heart generally works as it should, but some people develop related problems with age.

And if there is scar tissue on the heart, as a result of the surgery, this can increase the risk of problems.

The person may experience:

  • an irregular heart rhythm, or arrhythmia
  • cyanosis
  • dizziness and fainting
  • swelling of organs or body tissues, known as edema
  • breathlessness
  • fatigue, especially after exertion

Also, mild symptoms of a CHD that do not warrant surgery during childhood may worsen over time and require treatment in adulthood.

CHDs can lead to complications, such as:

Developmental problems

A child with a CHD may start walking and talking later than their peers, and they may have learning difficulties. They may also be smaller than others of the same age.

Arrhythmias

An irregular heartbeat, or arrhythmia, can be a complication of CHD. The name for a fast heartbeat is tachycardia, and a slow one is called bradycardia.

If the heart cannot pump blood around the body effectively, heart failure can result.

This can affect either or both sides of the heart, and the symptoms vary accordingly. Heart failure can be fatal and requires immediate attention.

Pulmonary hypertension

Uncontrolled high blood pressure in the arteries of the lungs, known as pulmonary hypertension, can lead to irreversible lung damage.

Endocarditis

Inflammation of the lining, valves, or muscles of the heart — called endocarditis — can spread from the skin, gums, or elsewhere in the body. Having a CHD increases the risk of this problem.

A stroke

If there is an obstruction in the flow of blood to a part of the brain, a stroke can result.

Blood carries oxygen and glucose to the brain, and without this, brain cells die. The effects of a stroke can include problems with speech, movement, and memory.

To reduce the risk of complications, the CDC recommend:

  • having a healthful diet to ensure growth and good health
  • getting regular exercise, as this helps to strengthen the heart
  • taking any necessary medications
  • following the doctor’s advice carefully
  • discussing any precautions that may be necessary during pregnancy
  • knowing the signs of related health conditions, such as cardiovascular problems, liver disease, and diabetes

It is also important to recognize the warning signs of a heart attack, including:

  • pain in the chest, back, arm, neck, or jaw
  • shortness of breath
  • nausea, vomiting, and dizziness

If anyone experiences these symptoms, it is crucial to call 911 immediately or otherwise request emergency medical care.

Living with CHD may cause anxiety and depression. A doctor should be able to provide the details of local support groups.

In the past, CHDs were usually fatal, but medical advances over the last few decades have significantly increased survival rates.

The outlook depends on the:

  • severity of the abnormality
  • swiftness of the diagnosis
  • treatment provided

Doctors now expect that around 96% of people who receive a CHD diagnosis and hospital treatment survive. Meanwhile, research into further advances continues.

In the future, treatment might involve using bioengineered tissues rather than prostheses and fixing any problems in the developing heart before birth.