Aortic Stenosis and Congenital Anomalies

What is Aortic Stenosis?

The valve connecting the heart to the rest of the body isn't working properly. It may not open or close correctly, and sometimes it leaks blood. This can damage the heart due to the pressure buildup from the blocked blood flow.

Information for Parents of Children with Aortic Stenosis

  • It's crucial to understand that aortic valve stenosis causes narrowing or obstruction, overloading the left ventricle, which must work harder to pump blood past the obstruction.
  • When the heart valve fails to retain the pumped blood, this is called insufficiency (or regurgitation). This happens between heartbeats, with blood flowing back into the pumping chamber.
  • Some children primarily have blockage, others mainly experience insufficiency, and some have both.
  • Aortic stenosis (AS) occurs due to a defect in the aortic valve's formation. A healthy valve has three parts (leaflets or cusps), while a stenotic valve might have only one (unicuspid) or two (bicuspid) that are thick and rigid instead of thin and flexible.

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Understanding Aortic Stenosis

What are the causes of aortic stenosis?

The exact cause is unknown for most children. This heart defect is common and may occur with other anomalies in some children.

What does aortic stenosis involve?

In children with AS, the pressure in the left ventricle is much higher than normal, forcing the heart to work harder to pump blood into the body's arteries. Over time, this can cause hypertrophy (thickening) and damage the overworked heart muscle. The heart has to work extra hard to pump the normal amount of blood, plus the blood pushed back into the left ventricle between beats. This can increase left ventricle size and damage the heart muscle.

How does aortic stenosis affect a child?

With mild obstruction and leakage, the heart isn't overworked, and no symptoms appear. However, more severe stenosis can cause symptoms in early childhood, such as chest pain, unusual fatigue, dizziness, or fainting. Most children with aortic stenosis are asymptomatic. Special examinations may be needed to assess severity.

What can be done for aortic stenosis?

The obstruction and leak can be improved, but complete restoration to a normal state is impossible.

To effectively treat pediatric aortic stenosis, the high pressure in the left ventricle must be addressed, even without visible symptoms. Most children benefit from cardiac catheterization with valvulotomy to eliminate the obstruction. This involves a balloon catheter placed at the aortic valve. The balloon is briefly inflated to open the valve by stretching it.

Surgery may be necessary for stenosis. The surgeon can often widen the valve opening if it's too narrow. However, valve leaks can develop or worsen after surgery or balloon treatment for obstruction.

When a child's aortic valve doesn't respond to valvulotomy, replacement is likely needed. Three surgical methods exist:

  • The Ross procedure: This involves removing the abnormal aortic valve and replacing it with the child's own pulmonary valve. The pulmonary valve is then replaced with a preserved donor pulmonary valve;
  • Replacement with a preserved donor valve;
  • Aortic valve replacement with a mechanical valve.

Each option has advantages and disadvantages. Discuss these with a pediatric cardiologist and/or cardiac surgeon.

Children with aortic stenosis: how do they live day-to-day?

What activities can a child with aortic stenosis do?

Physical activity restrictions may not be necessary if the valve is malformed but without significant obstruction or leakage. However, with obstruction, leakage, or heart muscle abnormalities, exercise restrictions might be needed. Discuss this with your child's pediatric cardiologist.

What will a child with aortic stenosis need in the future?

Close collaboration with a pediatric cardiologist is essential for lifelong follow-up. Regular exams will detect worsening obstruction or leaks. Even mild stenosis can worsen over time, and balloon or surgical relief is sometimes incomplete. The valve may continue to function slightly abnormally after treatment.

What to do if aortic stenosis is still present in adulthood?

If the aortic valve becomes too blocked (stenosis) or leaks (regurgitation or insufficiency), repair or replacement is needed.

Valve repair is one option for a blocked or narrowed valve.

  1. In the catheterization lab, using a balloon to force the leaflets open;
  2. During open-heart surgery, there's a risk of developing a valve leak. Some patients have undergone these interventions, sometimes both, as infants or children.

Faulty valve replacement requires open-heart surgery. For most adults, replacement is preferable to repair when the valve is malfunctioning.

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