Bicuspid aorta is an abnormality that affects one of the four valves of the heart. Most often asymptomatic, it is often discovered incidentally. It can nevertheless lead to potentially serious complications which then require treatment. What are these complications? How to diagnose them? And when should patients be operated on? Explanations from Dr Guillaume Goudot, cardiologist and lecturer in vascular medicine at the Georges Pompidou European Hospital (AP-HP).
What is bicuspid aorta?
What is the role of the bicuspid valve?
The aortic valve is one of the four main valves of the heart. It separates the left ventricle from the aorta. It is made up of three layers called cusps which participate in the transport of oxygenated blood from the heart to the aorta.
Definition of a bicuspid aortic valve
The bicuspid aortic valve is a congenital variation (present at birth) of the aortic valve which has only two valve leaflets instead of the usual three.
How many people have bicuspid aorta?
It is a relatively common congenital anomaly of the heart, since it affects approximately 1% of the population, underlines Dr Guillaume Goudot, cardiologist and lecturer in vascular medicine at the Georges Pompidou European Hospital (AP-HP ).
Who can have a bicuspid aortic valve?
This congenital heart defect can affect anyone. Present from birth, it can manifest itself in childhood (which is, however, rare) or never give symptoms. When it is symptomatic, it is generally after the age of 40, specifies the specialist.
What causes a bicuspid aortic valve?
Is bicuspid aortic hereditary?
“We do not really know the causes of a bicuspid aortic valve”, indicates the specialist. “Genetic abnormalities have been found in familial forms, particularly relating to the NOTCH1, SMAD6 and MIB1 genes. But in most cases, genetic anomalies are not found, either because they have not yet been identified, or because they do not exist and are therefore not responsible for bicuspid aortic disease..
What are the symptoms of a bicuspid aorta?
Does bicuspid aorta cause pain?
In the majority of cases, a bicuspid aortic valve does not cause any symptoms because this anomaly does not prevent the aortic valve from functioning properly. Most often, patients do not complain. The discovery of a bicuspid aortic joint is most often fortuitous, occurring following a heart imaging test prescribed for a completely different reason.
Can a bicuspid aortic cause complications?
Even if a bicuspid aortic valve does not prevent the aortic valve from functioning properly, being a carrier of such a cardiac anomaly is not trivial, emphasizes Dr. Goudot. “The bicuspid aortic valve accelerates the aging of the aortic valve, which will calcify and stiffen. This anomaly is also the first source of aortic stenosis in young people (before 70 years).”.
Aortic stenosis
One of the main complications associated with this premature aging is the narrowing of the aortic valve, known by the medical term aortic stenosis: the valve becomes an obstacle to the ejection of blood from the heart. On a clinical level, this leads to heart failure which manifests itself by shortness of breath on exertion and then without effort, edema of the legs, discomfort which can lead to loss of consciousness and chest pain, lists the cardiologist.
Aortic leak
“Another possible complication is aortic leak, which will also lead to heart failure”indicates Dr. Goudot.
Infective endocarditis
More rarely, bicuspid aortic valve can be complicated by an infection of the valve, also called infective endocarditis. “The bicuspid valve is more sensitive to infectious agents of dental origin. This is why we make patients with such an anomaly aware of the importance of careful dental hygiene.”specifies the doctor.
Aortic aneurysm
Finally, a bicuspid valve can be associated with abnormalities of the aorta, located behind the valve, in particular an aortic aneurysm. This aortic dilatation does not cause any symptoms, but it does expose it to a risk of rupture which constitutes an absolute emergency, warns the doctor. “Sudden and violent pain in the chest, possibly associated with discomfort, should lead the person to call 15″.
How to diagnose bicuspid aorta?
What imaging tests are used?
The main imaging test for diagnosing a bicuspid aortic valve is echocardiography or cardiac ultrasound. This examination allows you to see the aortic valve open and close, to count the number of leaflets but also to observe if complications are already present, in particular stenosis or an aortic aneurysm: “Cardiac ultrasound makes it possible to make both the diagnosis of bicuspid aortic valve and to take stock of the situation..
Visualization of the aortic valve may be difficult. In this case, two additional examinations may be offered: MRI angiography or CT angiography (also called CT or CT).
Is a genetic examination systematic?
Several genes have been identified as responsible for familial bicuspid aortics; their research is however not systematic, it is only offered in family and/or complex forms.
On the other hand, it is recommended to offer screening for bicuspid aortic valve by cardiac ultrasound to first-degree relatives of an individual with this anomaly, namely children, parents and siblings, underlines Dr Goudot.
How to treat a bicuspid aortic joint?
Simple monitoring
In the absence of complications, management of a bicuspid aortic valve is generally limited to its monitoring via cardiac ultrasound. “The frequency of monitoring depends on the appearance of the valve and the size of the aorta: it can be from an annual examination or more in the event of aortic leak or dilatation, to an examination every 5 years in absence of particular signs”, indicates the cardiologist. At the same time, the attending physician must ensure that his or her patient's blood pressure is regularly monitored because high blood pressure affects the aortic valve.
“Intervention is not inevitable. “Patients develop very differently from each other and it is very difficult to predict who will need surgery.”.
Replace the valve
However, in the event of critical complications of the valve or aorta, surgical intervention must be planned. “The intervention consists of replacing the aortic valve and the ascending aorta if it is dilated. It is a decision that is made after a thorough assessment and consultation between specialists in charge of the patient: the cardiologist, the cardiac surgeon and, sometimes, the radiologist..
There are two approaches to this intervention:
- Classic surgery, which consists of opening the sternum to replace the valve and/or the aorta;
- Percutaneous implantation (or TAVI), a much less invasive technique which does not require opening the thorax, which limits the risk of infection.
The choice between these two therapeutic options is based on the conformation of the valve and results from a collegial discussion between the medical team and the patient. “Very invasive, conventional surgery is generally offered to young patients in whom we favor the installation of a mechanical, metal valve, for its long life, and to patients who present with both valvular and aortic complications. The percutaneous approach, which uses biological valves from pork or beef, whose lifespan is shorter than that of mechanical valves, is mainly offered to older patients.explains Dr. Goudot.
In the event of a malfunction of the prosthesis, linked to an infection or thrombosis for example, or in the event of premature aging of the implanted valve, the patient will need to be operated on again. The question of approach (conventional surgery or percutaneous approach) will arise again.
How to live with a bicuspid aortic joint?
After surgery, rehabilitation of at least one month is essential to rehabilitate the patient to the effort. “The goal of treatment is to allow him to return to normal activity.”.
Can you play sports with a bicuspid aortic joint?
Physical activity is strongly recommended, but certain sports remain discouraged: “Mechanical valves require anticoagulant treatment, which exposes you to a risk of bleeding; we will therefore advise against combat sports in particular”. On the other hand, regardless of the type of prosthesis, mechanical or biological, all endurance sports (walking, running, cycling, swimming) are strongly recommended.
What is the life expectancy of patients?
The life expectancy of people with a bicuspid aortic valve is the same as that of people with a normal three-leaflet aortic valve, “but at the cost of regular monitoring”, underlines the doctor. “After heart surgery, the patient will have to undergo an annual check of their prosthesis throughout their life.