Congenital Heart Disease

Congenital heart diseases (CHDs), or heart defects, are problems with the structure of the heart that are already present when a baby is born. They happen when the heart does not develop properly while the baby is in the womb. They are the most common type of birth defect.

CHDs affect the valves and walls of the heart, and the arteries and veins near the heart. They impact the normal flow of blood, either slowing it down, changing its direction, or blocking it completely.

Types of CHD

They are many types of CHD, and they range from mild to severe. No treatment is needed for some, while others require treatment immediately after birth. Mild CHDs include atrial septal defect and ventricular septal defects. These may have no symptoms and may not require surgery. More severe CHDs include hypoplastic left heart syndrome, which may have life-threatening symptoms. With the advances in diagnosis and treatment, more babies are surviving and many adults are living with CHDs.

The more common types of CHD include:

The causes of CHD are relatively still a mystery, and doctors don't always know why one occurs. But research points to a few factors that could be the cause:

• Genetics can sometimes play a role.
• Changes in the child’s DNA, genes or chromosomes.
• A combination of genes and other factors, such as the mother's diet, health, or medication use during pregnancy, and other environmental factors.

Symptoms of CHD

Signs and symptoms of CHD may be different for newborns and adults, and they also vary based on the type and severity of the defect. Many have few or no symptoms, and some are not diagnosed until children are older.

Some common signs and symptoms include:

• Cyanosis (a bluish tint to the skin, lips, and fingernails)
• Fatigue
• Heart murmurs
• Poor blood circulation
• Rapid breathing
• Tiredness when feeding

Diagnosing Congenital Heart Disease

Some CHDs are diagnosed during pregnancy or soon after birth, while others may not be found until childhood or even adulthood. A physical exam is performed and diagnostic tests are ordered based on the results of the exam. During pregnancy, a fetal echocardiogram is used to take pictures of the baby's heart.

Common tests used to diagnose CHD include:

• Cardiac catheterization
• Chest X-ray
• Echocardiography
• Electrocardiogram
• Genetic testing

Treatments

The treatment prescribed for a CHD will depend on the type, its severity, the child's age and general health. Some CHDs require no treatment or can be managed by medication. Others require surgery or even heart transplants. Some people may need treatment throughout their lives. But anyone with a CHD should have regular visits to a cardiologist to keep a close eye on their condition.

Surgery may be needed to repair a hole in the heart, repair complex defects such as the location of blood vessels, repair or replace a valve, or widen narrowed blood vessels. Surgeries that are sometime needed include:

• Cardiac catheterization. A thin, flexible tube called a catheter is threaded through the blood vessels into the heart. The surgeon can then repair the problem or take measurements and perform tests. The catheter can also be used to open up blood vessels or valves that are narrowed due to stenosis.
• Heart transplant. If a child has a severe defect that can't be repaired through surgery, they may need a transplant. They may also need one if they are dependent on a ventilator or have severe symptoms of heart failure.
• Ventricular assist device. This is a mechanical pump that is implanted to assist a weakened heart and improve blood flow.