Congenital heart disease

Congenital means existing at birth. A congenital heart defect happens when the heart or the blood vessels near the heart don't develop normally before birth. Congenital heart defects are present in about 1% of live births and are the most frequent congenital malformations in newborns. In most cases, we don't know why they happen. Some causes include viral infections, certain conditions such as Down Syndrome, and drug abuse during pregnancy, (alcohol, cocaine).

Treatments for congenital heart defects have come a long way. Today, most children grow up to lead full, active lives.

Symptoms
Diagnosis
Treatment

Types

There are many types of congenital heart defects. To help you understand more about them, you will probably need to refer to the anatomy of the heart

Obstruction of blood flow (stenosis)
A narrowing or obstruction that partly or completely blocks the flow of blood. Obstructions can occur in heart valves, arteries or veins. The three most common forms are:

Pulmonary stenosis
The pulmonary valve (which lets blood flow from the right lower chamber of the heart to the lungs) is narrowed. As a result, the right lower chamber (right ventricle) must pump harder than normal to overcome the obstruction. This may cause stress on, and enlargement of, the right ventricle.

Aortic stenosis
The aortic valve, which controls the flow of blood between the lower left chamber of the heart (the left ventricle, the main pumping chamber of the heart) and the aorta, the large artery that carries oxygen-rich blood from the heart to the rest of the body, becomes narrowed making it difficult for the heart to pump blood to the body.

Coarctation of the aorta
The aorta is pinched or constricted, which obstructs the flow of blood to the lower part of the body and increases blood pressure above the constriction.

Septal defects (holes in the heart)
When a baby is born with an opening between the wall (the septum) that separates the right and left sides of the heart, blood flows between the right and left chambers of the heart instead of flowing normally to the rest of the body This may cause the heart to become enlarged This defect is commonly referred to as a "hole in the heart." The two most common forms are:

Atrial septal defect
An opening exists between the two upper chambers (atria) of the heart. This allows some blood from the left atrium (blood that's already been to the lungs) to return, via the hole, to the right atrium. Normally, the blood should flow from the left atrium to the left ventricle (lower chamber of the heart), and from there out the aorta and to the body.

Ventricular septal defect
An opening exists between the two lower chambers of the heart (the ventricles). Some blood that has returned from the lungs and has been pumped into the left ventricle flows to the right ventricle through the hole, instead of being pumped into the aorta and out to the body.

Patent ductus arteriosus
The ductus arteriosus, a blood passageway that normally closes after birth fails to close properly causing too much blood to flow to the lungs. The severity of the problem depends on how large the opening is and how prematurely the baby was born. Medications now exist to either close (or keep open) the ductus arteriosus, without having to resort to surgery. If however these medications do not work, surgery is required.

Cyanotic defects
In these defects, blood pumped to the body contains less-than-normal amounts of oxygen called cyanosis a blue discoloration of the skin caused by low oxygen content in the blood. The term " blue babies" is often applied to infants with cyanosis.

Tetralogy of fallot
This condition involves four defects that make the level of oxygen in the blood too low:

  • a large hole in the wall between the two lower chambers that allows oxygen-poor blood to mix with oxygen-rich blood (ventricular septal defect).
  • a narrowing at, or just beneath, the pulmonary valve, which can block the flow of blood from the right side of the heart to the lungs.
  • a more muscular than normal lower right chamber of the heart (ventricle)
  • an aorta that lies directly over the lower chambers of the heart, allowing oxygen-poor blood to flow into the aorta

Transposition of the great arteries
The position of the pulmonary artery and the aorta are reversed. Some type of opening (such as an atrial septal defect or ventricular septal defect) also exists between the right and left sides of the heart. The aorta is connected to the right ventricle, so most of the blood returning to the heart from the body is pumped back out without first going to the lungs to refresh with oxygen. The pulmonary artery is connected to the left ventricle, so that most of the blood returning from the lungs goes back to the lungs again.

Ebstein's anomaly
In this rare condition, the tricuspid valve, which controls blood flow between the upper right chamber of the heart (right atrium) and the lower-right chamber (right ventricle), is located lower than normal, causing the ventricle to be too small, and the atrium to be too large.

Symptoms

The most common signs and symptoms of congenital heart defects are:

  • A heart murmur
  • A bluish tint to skin, lips, and fingernails ("blue baby")
  • Fast breathing
  • Shortness of breath
  • Poor feeding, especially in infants because they tire easily while nursing
  • Poor weight gain in infants
  • Fatigue during exercise or activity (older children).

How is congenital heart disease diagnosed?

A heart defect may be discovered during pregnancy, after birth or in adulthood, when the body puts greater demands on the heart. If a heart defect is suspected, your child will be referred to a pediatric cardiologist who will take a family and medical history, do a physical examination, and order tests, which may include:

Electrocardiogram (ECG/ EKG)
Echocardiogram
Chest X-ray
Cardiac catheterization

Treatment

Most congenital heart defects can be treated with medication or surgery.

Medication
Here are the kinds of medication that may be used to help treat heart defects.

ACE inhibitors
Beta-blockers
Diuretics
Digoxin

Inotropes strengthen the heart's ability to pump.

Prostaglandin E1 is used to keep the ductus arteriosus open in children who have a defect called patent ductus arteriosus until corrective surgery can be performed. This improves blood flow and oxygen levels until the defect is corrected.

Medication is also often needed after surgery. They may include:

In the first six months after surgery, antibiotics may be recommended before dental work or other invasive procedures to prevent infection of the heart (endocarditis). Speak to your doctor or dentist about antibiotics before dental work.

Surgery and other procedures

Heart transplant is a procedure in which the defective heart is replaced by a healthy donor heart.

Non-surgical procedures
In many cases, the strain to the heart requires procedures that either fix holes between the chambers, replace valves or repair or reconnect major blood vessels. Several can be used to repair and correct congenital heart defects They may include:

Cardiac catheterization is often used to repair simple holes in the heart. A catheter (thin tube) is inserted into a blood vessel in the groin or arm and guided to the heart so that a surgeon can insert a plug inside the hole to repair it.

Angioplasty is used to repair defective cardiac valves that can be either too narrow or leaky. A tiny balloon is guided to the heart inside a catheter (a thin tube). When the balloon is inflated, it can stretch the opening of a narrowed heart valve and restore normal blood flow. It is removed once blood flow returns.

For more information, go to the Other Resources section for the publication called Heart & Soul: Your Guide to Living with Congenital Heart Disease (PDF)