Congenital Heart Defects in Children

What are the Symptoms of Congenital Heart Disease in Children?

Serious congenital heart defects often manifest shortly after birth or within the initial months of life. The symptoms can encompass:

• A pale gray or blueish tint to the skin (cyanosis)
• Accelerated breathing
• Swelling in the legs, abdomen, or around the eyes
• Difficulty breathing during feedings, leading to inadequate weight gain
• Less critical congenital heart defects might not be identified until later in a child's life, as there may not be any noticeable symptoms early on. For older children, symptoms could include:
• Shortness of breath during exercise or activity
• Getting tired quickly during exercise or activity
• Fainting during exercise or activity
• Swelling in the hands, ankles or feet

When to see a doctor?

Severe congenital heart defects are usually diagnosed before or soon after your child is born. Call your child's doctor if your baby has any of the above symptoms.
Contact your child's physician if they exhibit any signs or symptoms of milder heart defects as they grow older. Your child's doctor can determine whether these symptoms are related to a heart defect or another health issue.

Causes of Congenital Heart Diseases in Children

How does the heart work?

The heart is divided into four chambers, two on the right and two on the left. The heart uses its left and right sides for different tasks, pumping blood throughout the body.
The right side of the heart carries blood to the lungs through vessels called the pulmonary arteries. After receiving oxygen in the lungs, the blood returns to the left side of the heart through the pulmonary veins. The left side of the heart then pumps blood to the aorta and, from there, to the rest of the body.

How do heart defects develop?

In the first six weeks of pregnancy, the heart begins to take shape and beat. The main blood vessels to and from the heart also begin to form at this critical time during pregnancy.
Heart defects may begin to develop at this point in your baby's development. Researchers aren't entirely sure what causes many of these defects, but they think genetics, certain medical conditions, certain medications, and environmental factors such as smoking may play a role.

What Are the Types of Heart Defects?

We can list congenital heart defects as follows.

Heart Holes: Holes may develop within the walls separating the heart's chambers or in the major blood vessels exiting the heart.
In certain instances, these openings permit the mixing of oxygen-depleted blood with oxygenated blood, leading to reduced oxygen delivery to your child's body. The severity of oxygen shortage, influenced by the hole's size, may cause your child's skin or nails to take on a bluish hue and could potentially result in congestive heart failure.
A ventricular septal defect refers to an opening in the wall that separates the heart's lower chambers (the ventricles) on the right and left sides. An atrial septal defect is present when there's an opening between the heart's upper chambers (the atria).
The patent ductus arteriosus is a connection between the pulmonary artery (which carries oxygen-poor blood) and the aorta (which carries oxygen-rich blood). A complete atrioventricular canal defect involves the formation of a hole at the heart's center.

Impeded Blood Flow: When blood vessels or heart valves are narrowed due to a heart defect, the heart has to work harder to pump blood. This eventually leads to heart enlargement and thickening of the muscle. Examples of such defects are pulmonary stenosis and aortic stenosis.

Abnormal Blood Vessels: Many congenital heart defects occur when the blood vessels that lead to and from the heart do not form correctly or are improperly positioned.
A condition known as transposition of the great arteries happens when the positions of the pulmonary artery and the aorta are reversed in the heart.
Coarctation of the aorta is a situation where the primary blood vessel that distributes blood throughout the body is abnormally narrow. A total anomalous pulmonary venous connection refers to a defect in which the blood vessels from the lungs connect to an incorrect part of the heart.
If the heart valves cannot open and close correctly, blood cannot flow smoothly.
One instance of these abnormalities is the Ebstein anomaly, characterized by a misshapen tricuspid valve located between the right atrium and the right ventricle, which frequently results in leakage.
Another example is pulmonary atresia, where the pulmonary valve is missing, causing abnormal lung blood flow.

An underdeveloped heart: Sometimes, a large part of the heart does not develop properly. In hypoplastic left heart syndrome, the left side of the heart is not developed enough to pump blood throughout the body effectively.
A mixture of anomalies. Certain infants are born with multiple heart defects. Tetralogy of Fallot encompasses four distinct abnormalities: an opening in the wall separating the heart's ventricles, a constricted pathway from the right ventricle to the pulmonary artery, an altered positioning of the aorta's connection to the heart, and an increase in muscle thickness within the right ventricle.

What are the Risk Factors for Congenital Heart Diseases in Children?

Most congenital heart defects occur for unknown reasons during your child's early heart development.
Environmental and genetic factors may contribute to the development of congenital heart defects. These include:

Rubella (German Measles): Infection in an expectant mother can disrupt the baby's heart formation. Doctors might check immunity to this virus before pregnancy and offer vaccination if necessary.

Diabetes: Managing diabetes meticulously before and throughout pregnancy can lower the risk of your baby developing heart defects. However, gestational diabetes typically doesn't elevate the risk of heart defects.

Medications: Certain drugs during pregnancy are linked to birth defects, including heart anomalies. It's crucial to inform your doctor about all medications you're taking before pregnancy. Drugs known to increase heart defect risks include thalidomide (Thalomid), ACE inhibitors, statins, isotretinoin (used for acne), and lithium.
Alcohol Consumption During Pregnancy: Drinking alcohol while pregnant heightens the risk of your baby developing heart defects.

Smoking: Smoking during pregnancy is associated with a higher chance of congenital heart defects in the baby.

Heredity: Heart defects can be familial or part of genetic syndromes. Children with Down syndrome often have heart defects, as do those with deletions on chromosome 22. Genetic counseling and testing can help assess the risk of congenital heart defects, especially if you already have a child with such a condition.

What are the Complications of Congenital Heart Diseases in Children?

Some possible complications that can occur with a congenital heart defect include:

Congestive Heart Failure: Significant heart defects can lead to this serious condition, characterized by rapid breathing and poor weight gain.

Delayed Growth and Development: Children with severe congenital heart defects tend to grow and develop more slowly, potentially affecting their size and learning milestones.

Heart Rhythm Issues: Arrhythmias can arise from the heart defect itself or from surgical scarring.

Cyanosis: A mix of oxygen-poor and oxygen-rich blood can cause a bluish skin tone.

Stroke Risk: Though rare, some children with heart defects have a heightened stroke risk due to blood clots that may pass through a heart hole to the brain.

Emotional Challenges: The physical and activity limitations or learning difficulties associated with heart defects may lead to insecurity or emotional issues in affected children. Parents should discuss any concerns about their child's emotional well-being with the doctor.

Need for lifelong follow-up: Children with heart defects should monitor their hearts for problems throughout their lives. These defects can increase the risk of infection of heart tissues (endocarditis), heart failure, or heart valve problems. Most children with congenital heart defects must be seen by a cardiologist regularly throughout life.

What Precautions Can Be Taken to Prevent Congenital Heart Disease in Children?

Because the exact cause of most congenital heart defects is unknown, preventing these conditions may not be possible. However, there are some things you can do that can reduce your child's risk of general congenital disabilities and possibly heart defects, such as:

Get the rubella (German measles) vaccine: Rubella infection during pregnancy can affect your baby's heart development. Make sure you are vaccinated before trying to conceive.

Check for chronic medical conditions: If you have diabetes, keeping your blood sugar under control can reduce the risk of heart defects. If you have other chronic conditions that require medication, such as epilepsy, discuss the risks and benefits of these medications with your doctor.

Steer clear of harmful substances: Throughout pregnancy, delegate tasks involving painting and using products with potent odors to others. Additionally, refrain from consuming medications, herbs, or dietary supplements before getting your doctor's approval. Avoid smoking and consuming alcohol while pregnant.

Take a multivitamin containing folic acid: Consuming 400 micrograms of folic acid daily has been shown to reduce the risk of congenital disabilities in the brain and spinal cord and may also help reduce the risk of heart defects.

How Are Congenital Heart Diseases Diagnosed in Children?

Your child's doctor may initially suspect a problem because they may hear a heart murmur during a routine exam. A heart murmur is a sound made when blood rushes through the heart or blood vessels so fast that it makes a sound that a doctor can hear with a stethoscope.
Most heart murmurs are innocent, meaning there is no heart defect, and the murmur is not dangerous to your child's health. But some murmurs may mean that blood is flowing abnormally through your child's heart because your child has a heart defect.

What are the Tests to Diagnose Congenital Heart Defects in Children?

Should there be a suspicion of a heart condition in your child, your or your child's physician might recommend various tests to confirm the presence of a heart issue. Beyond a standard physical examination, the following tests may be conducted:

Fetal Echocardiogram: This prenatal test enables the doctor to detect any heart conditions in your child before birth, aiding in treatment planning. It involves an ultrasound that uses sound waves to generate a visual representation of your baby's heart.

Echocardiogram: Post-birth, a standard echocardiogram may be utilized to diagnose congenital heart defects. This noninvasive procedure involves ultrasound imaging to produce detailed pictures of the heart, allowing the doctor to observe the heart's function and spot any irregularities in the heart muscle and valves.. 

Electrocardiogram (ECG): A noninvasive test that captures the electrical signals of your child's heart to identify any defects or arrhythmias. Electrodes linked to a monitoring system are placed on the child's chest, generating wave patterns that illustrate the heart's rhythm.

Chest X-ray: This imaging test can reveal if there's heart enlargement or excess fluid or blood in the lungs, indicators of heart failure.

Pulse Oximetry: A simple test measuring the oxygen levels in your child's blood. A sensor attached to a finger gauges the oxygen saturation, where low levels might suggest a heart issue.

Cardiac Catheterization In this procedure, a slender tube (catheter) is threaded into a vein in the groin and navigated to the heart. This test can provide a detailed view of the heart defect, surpassing the clarity offered by an echocardiogram. Some treatments can also be administered during the procedure.
Cardiovascular Magnetic Resonance Imaging (MRI): For adolescents and adults with congenital heart defects, cardiovascular MRI is becoming a key diagnostic tool. Modern MRI technology delivers quicker, high-resolution images compared to other techniques like echocardiography.

How Are Congenital Heart Defects Treated in Children?

Some congenital heart defects may not have a long-term effect on your child's health, and in some cases, such defects may heal without being treated safely. Small holes, for example, may heal independently as your child gets older.
Nevertheless, certain heart defects are critical and necessitate prompt intervention following their diagnosis. The treatment approach for your child's heart defect varies and may include:

Catheterization Procedures: For both children and adults, some congenital heart defects can be addressed using catheterization methods that do not require opening the chest or heart surgically. These procedures are frequently employed to repair holes or narrowed sections.
In procedures that can be done with catheterization, the doctor places a thin tube (catheter) in the leg vein and directs it to the heart with the help of X-ray images. After the catheter is in place of the defect, tiny instruments are passed through the catheter into the heart to repair the defect.

Open heart surgery: Depending on your child's condition, surgery may be required to repair the defect. Many congenital heart defects are corrected with open heart surgery, in which the chest is opened.
IIn some cases, minimally invasive heart surgery may be an option. This surgery involves minor cuts between the ribs and inserting instruments to repair the defect.
Heart transplant: If a severe heart defect cannot be repaired, a heart transplant may be an option.

Medications: Some mild congenital heart defects, especially those found later in childhood or adulthood, can be treated with drugs that help the heart work more efficiently.
Medicines known as angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs), beta-blockers, and fluid-depleting drugs (diuretics) can help relieve stress on the heart by lowering blood pressure, heart rate, and chest fluid. Certain medications may also be prescribed to help with irregular heartbeats (arrhythmias).
Sometimes, a combination of treatments is necessary. In addition, some catheter or surgical procedures have to be done step-by-step over the years, and other treatment options may need to be repeated as the child grows.

Long-term Treatment of Congenital Heart Defects in Children

Some children with congenital heart defects may need more than one procedure and surgery in their lifetime. While outcomes for children with heart defects have improved significantly, most people, except those with very simple defects, will still need ongoing care even after corrective surgery.
Ongoing surveillance and management:Surgery to correct a heart defect does not eliminate the need for lifetime monitoring of your child's condition.

Initially, a pediatric cardiologist will oversee regular assessments and follow-ups for your child born with a congenital heart defect. As they mature, the responsibility for their care transitions to an adult cardiologist, ensuring continuous oversight of their condition into adulthood. Congenital heart defects can influence aspects of your child's life as an adult, including the potential for additional health complications. Adults with congenital heart defects might require further treatments specific to their condition.
As your child gets older, it's important to remind them of the need for ongoing, life-long care and the heart condition corrected by doctors experienced in assessing and treating congenital heart disease. Encourage your child to tell their doctor about the heart defect and the procedures used to treat the problem.

Exercise restrictions:Parents of children with congenital heart defects may be concerned about the risks of rough play and activity, even after treatment. Although some children need to limit the amount or type of exercise, most can participate in regular or near-normal activities.
Your child's physician can guide you on which activities are appropriate for your child. If certain activities carry significant risks, motivate your child to engage in alternative activities rather than dwelling on limitations. While individual experiences vary, the majority of children with congenital heart defects can grow up to have healthy, fulfilling lives.

Infection Control: The specific congenital heart defect your child has, along with the surgical intervention they've undergone, may necessitate extra measures to avert infections.

Occasionally, congenital heart defects can heighten the risk of infection in the heart's lining or valves (known as infective endocarditis). Due to this increased risk, your child might require preventive antibiotics prior to further surgical interventions or dental work.
Children at higher risk of infection include those whose defects have been repaired with a prosthetic material or a device such as an artificial heart valve.

You can ask your child's cardiologist if preventive antibiotics are necessary for your child.