Congenital Heart Disease

A congenital heart defect is a problem with the structure of the heart that is present at birth. Congenital heart defects are the most common type of birth defect. They can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. They disrupt the normal flow of blood-they can slow down the flow, go in the wrong direction or to the wrong place or be blocked completely.

Severe defects are generally found during pregnancy or soon after birth. Severe defects in newborns manifest as rapid breathing, cyanosis, fatigue, and poor blood circulation. However, less severe forms of congenital heart defects cause few or no symptoms. They often go undiagnosed until children are older.

Note: Highlighted below are some forms of congenital heart defects. Not all are covered below. More information on those listed and those not covered can be found at the American Heart Association 

Common Congenital Heart Defects

Aortic Valve Stenosis (AVS)

Stenosis is the narrowing or obstruction of the aortic valve. This makes the left ventricle pump harder to get blood past the blockage. Regurgitation is when the blood that has been pumped through the valve leaks backwards into the pumping chamber between heartbeats. This occurs when the valve doesn’t form correctly. A normal valve has three parts, but a stenotic valve may have only one or two, which are thick and stiff rather than thin and flexible. This leads to the left ventricle being enlarged and may damage the heart muscle.

To help alleviate symptoms several treatments are used including cardiac catherization by balloon valvotomy, surgery to enlarge valve, surgical replacement (mechanical or donor valve, or replaced with pulmonary valve)

Children with this need lifelong medical follow up.

Atrial Septal Defect (ASD)

This is a defect in the septum, the wall that separates the hearts left and right sides. A hole in the

septum leads to the two top chambers of the heart blood mixing. This means that oxygen-rich blood leaks into the oxygen poor blood chamber. Every child is born with this opening but after birth the opening closes or becomes very small within a few weeks. However, when the opening is larger it may not close, and the extra blood being pumped into the lung arteries makes the heart and lungs work harder and the lung arteries can become gradually damaged.

To treat open-heart surgery usually is done in early childhood, even in patients with few symptoms. This is to help prevent complications later. Many defects can be sewn closed without using a patch.

Children with ASD need to be monitored for a short time after surgery. The long-term outlook is excellent, and usually no additional measures are needed.

d-Transposition of the Great Arteries

When a d-transposition occurs the blood pathway is impaired because the two arteries are connecting to the wrong chambers in the heart. A normal blood pattern carries blood from body-heart-lungs-heart-body. A blood pattern with a d-transposition is either body–heart –body, so it never goes to lung for oxygen, or lungs–heart–lungs so the oxygen is not delivered to the body. This condition is not survivable without surgery.

Children with transposition will require lifelong medical follow up.

Tetralogy of Fallot

Normally the left side of the heart pumps blood to the body, and the right blood to the lungs. However, with tetralogy of Fallot the blood can travel across the VSD from the right ventricle into the left ventricle and out into the body artery. The normal amount of blood that is pumped to the lungs is prevented due to an obstruction in the pulmonary valve leading from the right ventricle to the lung artery. This is treated surgically, often with an initial shunt operation to provide adequate blood flow to the lungs. Later a complete repair is done by closing the ventricular septal defect with a patch, opening the right ventricular outflow tract, repairing or removing the obstructed pulmonary valve and, if needed, enlarging the branch pulmonary arteries that go to each lung.

Children who had tetralogy of Fallot repaired will need lifelong medical follow up.

Current Overall Treatments

Not all children with congenital heart defects need treatment, some cases can go undiagnosed and cause no health issues. Some defects, such as small holes, can even correct themselves as the child ages. However, many are quite serious and require immediate treatment. This can include catheterization, and for more serious conditions open-heart surgery. If it cannot be repaired a heart transplant may be required.

For milder conditions drugs can be used to lower blood pressure and decrease the stress on the heart. This includes angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs) and beta blockers. Some medications can be prescribed to help arrhythmias.

Many times a combination of the above treatments may be needed, and some may need to be repeated as the child grows. However even with these treatments people with congenital heart defects need ongoing care, and need to be monitored and restrict exercise for the rest of their life.