Congenital Isolated

Aortic Valve Disease

Shahid Raja
Poulomi Jana
Aortic Valve
✓The aortic valve is typically made up of 3 leaflets. The
left, the right and the posterior.
✓ If the aortic valve doesn't open all the way then it gets
harder to pump out the blood to the body and this is
called a aortic stenosis.
✓ If it doesn't closes all the way then blood leaks back
to the left ventricle called aortic valve regurgitation or
aortic insufficiency.
Aortic Stenosis
• Usually the aortic valve opens about 3 -4
cm². But in stenosis it can become less than
1cm².

• This is usually caused by mechanical stress

over time which damages endothelial cells.

• Another cause of aortic stenosis is

rheumatic fever.
Bicuspid Aortic Valve
✓ Congenitally it can be caused by Bicuspid Aortic
Valve.
✓ Some people are born with a bicuspid aortic
valve, in which the aortic valve — has only two
(bicuspid) cusps instead of three. People may also
be born with one (unicuspid) or four (quadricuspid)
cusps, but these are rare.
✓ A bicuspid aortic valve may cause the heart's aortic
valve to narrow (aortic valve stenosis).

✓ In some cases, the aortic valve doesn't close tightly,

causing blood to leak backward into the left ventricle
(aortic valve regurgitation).

✓ Most people with a bicuspid aortic valve aren't affected

by valve problems until they're adults, and some may not
be affected until they're older adults.
Congenital Subaortic Stenosis
✓ Is the second most common form of left
ventricular outflow obstruction. It occurs
when the flow of blood from the left
ventricle is restricted. This obstruction is in
the area of the heart under the aortic
valve.

✓ There are three types of subaortic

stenosis. Two of them are associated with
congenital heart disease.
✓
Subaortic membrane is the most common
type. It is a shelf-like membrane that
forms under the aortic valve.

✓ The subaortic membrane is twice as

common in males. It has been reported in
✓ Another type of
subaortic stenosis is a
subaortic tunnel. It is not
as common as the
subaortic membrane. In
this defect, the whole
area of the heart from the
base of the left ventricle
to the aortic valve is
narrowed—very much
like a tunnel. The aortic
valve is often smaller
than normal as well.
Supravalvular Aortic Stenosis
✓ Or SVAS is a generalized
disease of the arterial wall
caused by the thickening of the
media or intima layers, not
related to atherosclerosis,
which results in narrowing of
the lumen of the ascending
aorta or other arteries. SVAS
usually affects branches of the
pulmonary and coronary
arteries.

✓ Classically associated with

✓ SVAS is caused by mutations
in the ELN gene on chromosome Chromosome 7
7q11.23 which provides
instructions for making a protein
called tropoelastin.
✓
It is inherited in autosomal
dominant pattern. However,
some people who inherit the
altered gene never develop
features of SVAS (This situation
is known as reduced
penetrance).
✓
The identification of the genetic
defect in patients with
supravalvular aortic stenosis is
Diagnosis
✓ The ejection 'click.'

✓ The murmur created by the turbulent blood flow.

✓ Which gets initially louder as more blood passes

through the opening and quieter as the amount of
blood flowing subsides.

✓ This is called the crescendo-decrescendo murmur.

✓ A heart murmur is a key sign in suspecting and
diagnosing stenosis.

✓ An echocardiogram or heart ultrasound can be

done which will show the level and severity of the
obstruction. It will also show if the left ventricle is
thickened or enlarged.

✓ A magnetic resonance imaging (MRI) study or

cardiac catheterization may also be done. These will
help confirm the diagnosis and assess the severity.
Left ventricular hypertrophy
✓ The left ventricle has to generate higher pressure
each time it contracts to push the same amount of
blood through.

✓ To accomplish this left ventricle can thicken its

muscle called concentric left ventricular hypertrophy.
Complications
✓ Even though you have this bulked up ventricle, the
heart can still struggle to get enough blood through the
narrow door opening to the body and ultimately to the
vital organs and that means that the person is at the risk
of developing heart failure and various symptoms with
whichever organ involved.
✓
For example: syncope, chest pain and angina.
✓ Patient may not initially experience symptoms
at rest but during exercise.

✓ Microangiopathy hemolytic anemia which is

essentially damage to RBC as they are forced
through the smaller valve splitting them into
smaller fragments called schistocytes leading to
hemoglobinuria.
Treatment
✓ Aortic valve replacement

✓ Balloon valvuloplasty

✓ Aortic valve repair

✓ Aortic root and

ascending aorta surgery

✓ In case of Subaortic
stenosis, the surgeon
removes the membrane or
muscle causing the
obstruction.
Aortic regurgitation
✓ Normally right after the ventricle pump out the blood
through the aorta, the valves shut close till the ventricle
fills again.

✓ But with aortic regurgitation or aortic insufficiency blood

flows back from the aorta into the left ventricle during
diastole.
✓ Half of the cases are caused by aortic root dilation.

✓ Congenitally, it can be caused by bicuspid aortic

valve. In this case unlike stenosis the aortic valve
doesn't close tightly causing blood to leak backwards
into the left ventricle.

✓ Other causes of aortic regurgitation include

valvular damage caused by infective endocarditis and
chronic rheumatic fever.
Diagnosis
✓ People with aortic
regurgitation will have
early decrescendo
diastolic murmur caused
by blood flowing back
through the valves.

✓ Echocardiogram

✓ Electrocardiogram
(ECG)

✓ Chest X-ray
Hyperdynamic circulation
✓ Since blood is leaking back into the left
ventricle from the aorta the blood volume
in the ventricles increases, which
increases the stroke volume.

✓ More the blood pumped out of the heart

per squeeze require more pressure so
systolic BP increases.

✓ During diastole though there is less

blood volume in the aorta, since some of
that has leaked back into the ventricles so
the diastolic BP decreases.

✓ Higher systolic pressure and lower

diastolic pressure means an increase in
Complications

✓ People with
hyperdynamic
circulation has bounding
pulse (or water hammer
pulse).

✓ Head-bobbing.

✓ Pulsation of the
capillary beds of the
fingernail, which is
Left ventricular hypertrophy
✓ Over time the increase in blood volume in
the left ventricle causes the chamber to grow
larger called eccentric left ventricular
hypertrophy.
✓
Left sided heart failure.
Treatment

✓ Aortic valve repair

✓ Aortic valve replacement

Bicuspid Aortic Valve repair

Thank you