Congenital heart disease: Heart defects, types, and causes

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.

Types

A doctor may request imaging tests to help diagnose CHD.
A doctor may request imaging tests to help diagnose different types of CHD.

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.

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Symptoms

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.

Abnormal heart rhythms
Abnormal heart rhythms and faintness could be signs that a person with a CHD should seek medical help.

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.

Diagnosis

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.

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