Congenital heart disease and heart defects

The most common type of congenital heart disease happens when a person is born with a fault in the structure of the heart or the main arteries. This fault is known as a congenital heart defect, and it is one of the most common and potentially severe birth abnormalities.

The defect may obstruct blood flow in the heart or nearby vessels, or it may cause blood to flow through the heart irregularly.

Almost 1 percent of babies in the United States are born with a congenital heart defect (CHD) each year.

In the past, it was common for people born with a CHD to die of related health issues, but medical and technological advances mean that most people with the condition will now survive into adulthood. Their outlook will depend on the severity of the problem.

People who receive treatment for CHD as children should continue to have follow-up monitoring, while those with complex health needs might need life-long specialized care.

The American Heart Association (AHA) point out that people often use the terms “disease” and “defect” interchangeably in this context. However, the AHA say that “defect” is a more accurate term.


There are over 30 different types of heart defect, the most common of which is a ventricular septal defect.

Doctors will also classify congenital heart disease as either cyanotic or acyanotic:

Cyanotic heart disease: This is when the defect causes low blood oxygen levels. Infants experience breathlessness, fainting, and fatigue, and they may have blue-colored toes, fingers, and lips.

Acyanotic heart disease: In people with this condition, there is enough oxygen in the blood, but the heart does not pump the blood effectively around the body.

In some types of CHD, blood pressure is higher than usual. This means that the heart is having to work harder to pump blood, which can weaken it.

In some cases, there may be high blood pressure in the arteries of the lungs, known as pulmonary hypertension, which can lead to breathlessness, fatigue, dizziness, and fainting.


A person with cyanotic heart disease may have:

  • Difficulty breathing
  • Chest pain
  • A blue tinge to the lips, fingers, and toes, known as cyanosis
  • Delayed growth, difficulty feeding, and poor appetite in infants
  • A low concentration of oxygen in the body, leading to hyperventilation
  • Sweating, especially while feeding
  • Fainting
  • A small size or low body weight

A person with acyanotic heart disease may experience:

  • Feeling out of breath, especially during physical activity
  • Chest pain
  • A slow growth rate and a low body weight
  • Extreme tiredness
  • Difficulty feeding and poor appetite in infants
  • Sweating, especially when feeding

There may be no symptoms at the time of birth, but problems can arise as a child grows older, and these may need treatment.

Risk factors

A CHD usually results from a problem during the early stages of development.

There is a higher risk if, during pregnancy, a mother:

  • Has rubella, or German measles
  • Has poorly controlled diabetes, including gestational diabetes
  • Takes certain medications, such as isotretinoin
  • Consumes large amounts of alcohol

Genetic factors may play a role. People with certain genetic conditions have a higher risk of CHD. At least 15 percent of people with a CHD have an additional genetic disorder. CHD may run in families.

CHD in adulthood

A child with CHD may undergo surgery during childhood to repair a heart defect. In many cases, the heart mostly works normally after this.

However, some people can have problems as they grow older.

If there is scar tissue from the surgery in the heart, this can increase the risk of problems.

The person may experience:

  • Abnormal heart rhythms, known as arrhythmia
  • Cyanosis
  • Dizziness and fainting
  • Swelling of the organs or body tissues, known as edema
  • Breathlessness
  • Fatigue, especially after exertion

Mild signs and symptoms that do not need surgery during childhood may worsen over time.


Tests both before and after birth can show if a child is likely to have a heart problem.

Before birth

Ultrasound: During pregnancy, most women have routine ultrasound scans. These can give information about the structure of the baby’s heart.

Fetal echocardiography: If the scan suggests there is a problem, a fetal echocardiography can check for CHD in the developing child.

Fetal echocardiography is like an ultrasound scan, but it can collect more detailed information about the heart chambers. It usually takes place from week 18 to 24 of pregnancy.

After birth

A child who is born with cyanotic will usually have easily diagnosable signs and symptoms, but the symptoms of acyanotic heart disease may not emerge until the age of 3 years.

Parents or caregivers should seek medical advice if a child shows signs of:

  • breathlessness
  • feeding difficulties
  • other symptoms

The physician will usually assess heart activity using an electrocardiogram (ECG), an echocardiogram, or both.

Echocardiography: Sound waves create a moving image of the heart that shows its size, shape, and how well the heart chambers and valves are working.

It can detect areas where there is poor blood flow and any parts of the heart muscle that are not contracting effectively. It can also show whether the heart muscle has already sustained any damage due to poor blood flow.

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

A chest X-ray: An X-ray can show if the heart is too big, and whether there is too much blood in the lungs.

Pulse oximetry: The doctor places a sensor on the fingertip, ear, or toe. This can measure the levels of oxygen in the arterial blood.

Both 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 their blood pressure and heart activity.


According to the Centers for Disease Control and Prevention (CDC), around one in four infants who are born with CHD require surgery during their first year,.

Sometimes, symptoms improve without treatment, or the defect is small and they do not need treatment.

Watchful waiting can often show whether a person needs medication, surgery, neither, or both.

A person who is born with CHD may need treatment at any age, for example, medications to lower blood pressure.


If a person needs surgery, a surgeon may:

  • Carry out the procedure through a catheter
  • Perform open heart surgery

The procedure will depend on the type of defect the person has.

Options include:

  • A repair
  • A heart transplant
  • Valve replacement
  • Angioplasty

The surgeon may use balloon angioplasty 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 stop the valve from narrowing again.

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