Bicuspid aortic valve: associated pathologies and treatment

By Cristiano Antonino On Jun 25, 2023

Among the congenital heart malformations, the bicuspid aortic valve is one of the most frequent. This type of condition is characterized by the absence of a cusp, therefore, in this case the aortic valve has two valve leaflets instead of three

The aortic valve is a heart valve that regulates blood flow from the heart to the tissues and organs

The valve is also called the “aortic semilunar valve” due to its morphology and is located between the left ventricle and the aorta, from which it takes its name.

The aortic valve is usually tricuspid, so it is divided into three flaps, in the case of a bicuspid aortic valve, there are only two.

This particular morphology can lead to various symptoms, such as defects in fetal development.

The complications of the bicuspid aortic valve can be different and the treatments can change depending on several factors, first of all the stage and severity of the disease.

The main cause of the bicuspid aortic valve is the presence of a syndrome affecting the connective tissue

The probability of incurring this condition may increase if the subject has other cardiovascular diseases.

Turner syndrome is one of these: it is a pathology caused by the total or partial lack of an X chromosome in the female sex.

This syndrome can lead to various malformations, such as kidney malformations, but also to hearing problems, farsightedness, scoliosis and strabismus.

Turner syndrome can also be the cause of other heart conditions such as, for example, coarctation of the aorta.

Although the causes of the bicuspid aortic valve are genetic, the first symptoms can appear in adulthood: during childhood and adolescence there are generally no alarm bells capable of making one suspect the presence of a bicuspid aortic valve.

The presence of a bicuspid aortic valve may not be easy to detect

In fact, most people who suffer from this condition have no symptoms.

The explanation is simple: despite this malformation, the aortic valve is able to perform its function correctly and, generally, without complications.

As age progresses and the body begins to age, symptoms attributable to this medical condition may appear.

The wear of the valve flaps, as well as the increase in calcium and the deposit of this substance in the structures of the cardio-circulatory system can lead to the appearance of the first symptoms.

In some cases these symptoms do not present for life and this condition is not diagnosed until postmortem.

On the contrary, however, it may happen that some manifestations already occur in the first years of life, such as congestive heart failure and the presence of a heart murmur.

Among the symptoms of bicuspid aortic valve are

chest pain;
heart murmur;
palpitations;
dyspnea;
feeling of imminent fainting;
syncope;
fatigue;
tiredness.

If the condition is aggravated by the presence of other aortic valve disease, such as aortic stenosis with narrowing of the valve orifice, other symptoms may be added, such as:

embolism;
diseases of the other heart valves;
endocarditis;
heart failure.

Complications

The presence of a bicuspid aortic valve can lead to more or less serious complications, depending on various factors such as the patient’s age and the stage of the disease.

Complications may also vary depending on the degree of calcification and wear of the valve flaps.

The bicuspid aortic valve can overlap with other heart malformations, such as aortic coarctation (a narrowing of the aorta), making the situation worse.

This condition can lead the patient’s heart to have to sustain a greater effort than normal, favoring the onset of hypertension, hypotension of the limbs, cyanosis and severe chest pain.

Another complication is, as anticipated, aortic stenosis which consists in the narrowing of the orifice of the aortic valve which involves various health problems.

These include chest pain, syncope, dyspnea, and left ventricular hypertrophy, increased left ventricular wall thickness.

Diagnosing the bicuspid aortic valve is important to undertake the appropriate treatment path

In order to have an accurate diagnosis, a first visit to the general practitioner must be carried out, who will be able to suspect the presence of the condition on the basis of the symptoms described.

This visit is essential to understand the patient’s condition and the state of health of the heart.

During the first visit, the doctor inquires about the presence of any cases of congenital malformations in the family and the presence of other heart diseases.

Furthermore, he asks the patient for more details on the appearance of the first symptoms and on his lifestyle.

Secondly, a visit to the cardiologist is necessary, who can provide a specialist opinion on the clinical case.

During this visit, an objective examination is carried out, which focuses, above all, on cardiac auscultation.

The doctor uses a stethoscope to listen for pathological noises that are produced by the heart.

After verifying the presence of a murmur, other tests may be required to investigate the state of health of the organ.

Among these, echocardiography is the most prescribed test.

In more complex or less questionable cases, additional tests may be requested, including an electrocardiogram, chest x-ray, cardiac magnetic resonance, CT scan, or cardiac catheterization.

With these tests it is possible not only to accurately diagnose a bicuspid aortic valve situation, but also to identify related pathologies or other cardiovascular diseases.

There is not always treatment for a bicuspid aortic valve

In fact, in many patients, there are no symptoms or this condition does not imply complications such as to limit daily activities.

In many other cases, about 80%, the first symptoms are diagnosed between the ages of 30 and 40 and intervention is necessary to avoid other complications in the future.

Surgery may often be needed, even if the condition develops at a young age.

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Among the most performed surgical operations are:

the replacement of the aortic valve, an operation that is performed with an open heart and consists in the replacement of this structure with a prosthesis. The operation is very delicate and it is possible to choose between the implantation of mechanical or biological prostheses. This intervention is always performed even in cases of aortic insufficiency and stenosis. Furthermore, this surgical operation is crucial to prevent complications and avoid having to intervene again in the future;
the repair of the aortic valve involves a remodeling of this component of the heart, in order to restore its functions. This repair is less invasive than replacement, but it cannot always be performed on the patient and, for this reason, despite its less invasive nature, it is not always proposed;
valvuloplasty is a surgical procedure that exploits the insertion of a catheter which has a balloon at its end, necessary to widen the orifice and allow a better blood flow. In some cases this enlargement has a temporary effect, which is why the problem can recur.

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