Congenital heart disease: what is aortic bicuspidia?

Bicuspidia aortica is among the most frequently diagnosed congenital heart diseases; it will cause valve dysfunction, associated with insufficiency and stenosis

It will increase the risk of aortic dilatation and dissection, infective endocarditis and heart failure.

It can affect members of the same family although no genes linked to heredity have been discovered.

It will therefore be necessary to carry out cardiological checks if there is a case of aortic bicuspidism in the family.

The aortic valve, thanks to its opening and closing movements, makes it possible for blood to flow from the left ventricle to the aorta.

As a rule, the aortic valve consists of three cusps, and will also be called a tricuspid aorta.

As the name suggests, the aortic valve in bicuspid aortic valve will consist of two cusps.

The bicuspid aortic valve will form in the embryonic phase of valve formation

The two cusps will not separate but will fuse to form a single, larger cusp.

Bicuspidia will be termed uncomplicated when there will be no blockage of the left ventricular outflow, will not cause aortic insufficiency and will have normal bulb and ascending aorta dimensions.

There will, however, also be complications associated with aortic bicuspidia: there will be dilatation of the ascending aorta and the aortic root; aortic valve stenosis, which will see the valve not opening correctly in the systolic phase; aortic valve insufficiency, which will see the valve not close correctly in the diastolic phase; there will be an increased risk of infective endocarditis, which if not recognised in time, has a very high mortality risk.

For those with aortic bicuspidia, in most cases there will be no symptoms

The diagnosis will be made through routine cardiological checks.

As complications appear, symptoms will also become apparent, such as chest pain, shortness of breath, heart palpitation, loss of consciousness, and even heart failure.

The diagnosis of aortic bicuspidia will be made following the finding of a heart murmur.

If bicuspidia occurs in the uncomplicated form, auscultation of the heart will reveal a sort of clicking noise.

If there is aortic bicuspidia associated with stenosis, the murmur will be perceived as much rougher; if the stenosis is severe, it will spread to the neck and to all areas of the body where cardiac auscultation is possible.

Aortic bicuspidia with insufficiency will be associated with the presence of a diastolic murmur, audible at Erb’s point or focus (point at which auscultation of the aortic component of the second cardiac tone and cardiac murmurs caused by aortic valve alterations can be performed) if the insufficiency is severe, the peripheral arterial pulses are wide and jerky and the ratio between systolic and diastolic pressure values will be altered.

The best diagnostic technique, in the case of aortic bicuspidism, is the electrocardiogram; an electrocardiogram will make it possible to assess the number of cusps from which the aortic valve is composed and analyse its function, rule out the presence of other heart defects, examine the size and function of the heart chambers and measure the calibre of the aorta in the explorable segments.

The echocardiogram will allow the evolution of the bicuspid aortic valve and possible complications to be monitored.

A transesophageal electrocardiogram may be useful in order to have a better definition of the pathology due to better image definition.

Cardiac nuclear magnetic resonance imaging and CT angiography will be used when the echocardiogram is deemed insufficient, especially when studying aortic dimensions.

Cardiac nuclear magnetic resonance, will allow a much more accurate analysis and will allow the size and function of the left ventricle to be monitored.

Uncomplicated aortic bicuspidia will not require any treatment, but clinical tests will be necessary

Bacterial endocarditis prophylaxis will be necessary before treatments that may cause transient bacteremia, an example being dental extractions.

If you have aortic bicuspidia complicated by severe dilatation of the ascending aorta, stenosis or severe aortic insufficiency, surgery will be necessary.

For those with uncomplicated bicuspidia, fitness for sporting activity may be granted, but only after clinical checks.

On the other hand, those suffering from aortic stenosis that also significantly affects the blood circulation, or who have moderate insufficiency, will not be able to practise sport competitively.

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