Supravalvular aortic stenosis

Supravalvular aortic stenosis (SAS) is a hemodynamic disorder characterized by narrowing of the aortic orifice above the aortic valve. This narrowing may be due to either congenital anomalies or acquired changes, such as degenerative changes resulting from calcification and inflammatory processes. SAS may cause deterioration of cardiac output and, as a consequence, lead to significant clinical manifestations, including symptoms of heart failure and ischemic heart disease. The disease process often progresses slowly, and many patients may remain asymptomatic for a long time, although deterioration over time requires careful clinical monitoring and interventions.

History of the disease and interesting historical facts

The history of supravalvular aortic stenosis goes back to the early stages of the development of cardiology as a science. The first mentions of a pathology resembling NCS date back to the beginning of the 20th century, when doctors began to systematically study heart diseases. In 1954, the first successful surgical intervention to correct aortic stenosis was recorded, which influenced the further choice of treatment method for this disease. Over time, cardiac surgeons and cardiologists have formed an opinion that surgical treatment is the gold standard for NCS therapy, especially in patients with severe symptoms. One of the facts worth noting is that NCS is most often detected in men over 70 years of age, although congenital forms can occur in children.

Epidemiology

According to epidemiological studies, the prevalence of supravalvular aortic stenosis varies depending on the population and age. On average, its incidence among the elderly is 2-7% of the population, while symptoms develop in 3-5% patients with pronounced clinical manifestations. In children suffering from congenital forms of NCS, the detection rate reaches 0.6-1.2%. In men, the disease is diagnosed more often than in women, and in men with concomitant risk factors such as hypertension and diabetes, the incidence rate increases significantly. According to studies, the average age of diagnosis of aortic stenosis is 70 years, while in patients with congenital pathology - in the range from 20 to 40 years.

Genetic predisposition to this disease

One of the key aspects studied in clinical genetics is the genetic predisposition to supravalvular aortic stenosis. Certain genetic mutations have been identified that may increase the risk of developing this disease. It has been established that mutations in genes such as NOTCH1 and SMAD6 are associated with the occurrence of congenital forms of the disease. Subsequent studies have also identified changes in chromosomes 12 and 13 that may be associated with the development of stenosis. It is also noteworthy that the presence of a family history of NCS is a risk factor indicating a probable hereditary transmission.

Risk factors for the development of this disease

There are various risk factors that may contribute to the development of supravalvular aortic stenosis. The main ones include:

• Age - the disease is more common in older people.
• Gender - men are more susceptible to this disease.
• Comorbid conditions such as hypertension, diabetes and dyslipidemia may increase the risk.
• Smoking - Tobacco smoking is associated with cardiovascular disease.
• Congenital heart defects - such as coarctation of the aorta.

These risk factors can act either individually or in combination, leading to progressive narrowing of the aorta and deterioration of the overall condition of the cardiovascular system.

Diagnosis of this disease

Diagnosis of supravalvular aortic stenosis is based on clinical signs, laboratory tests and instrumental methods. The main symptoms may include:

• Shortness of breath during physical exertion.
• Chest pain.
• Dizziness or fainting.
• Deterioration in performance.

Laboratory tests may include a complete blood count and biochemical analysis, but echocardiography is more informative. During ultrasound examination of the heart, it is possible to detect a decrease in the area of the aortic valve and assess the degree of stenosis. Additionally, transthoracic or transaortic echocardiography can be used, which allows for more accurate visualization of anatomical features. In some cases, it is also necessary to perform angiography or magnetic resonance imaging to assess the general condition of the aorta and identify associated changes. Differential diagnosis should be carried out with other types of stenosis and cardiomyopathy, taking into account the individual characteristics of each patient.

Treatment

Treatment of supravalvular aortic stenosis depends on the stage of the disease and clinical manifestations. It is important to note that in the initial stages of the disease, dynamic observation and correction of risk factors are usually sufficient. However, in the presence of severe symptoms, the main method of treatment is surgical intervention.

Pharmacological treatment may include:

• Beta blockers to control blood pressure.
• Diuretics in the presence of heart failure.
• Antiplatelet agents to reduce the risk of blood clots.

Surgical treatment most often involves aortic valve replacement or balloon valvuloplasty to widen the narrowed area. Other treatments, such as transcatheter aortic valve replacement (TAVR), are becoming increasingly popular, especially in older patients who are not candidates for traditional surgery.

List of medications used to treat this disease

Drugs used to treat supravalvular aortic stenosis include:

• Atenolol - to control heart rate and blood pressure.
• Furosemide - for the treatment of edema and heart failure.
• Aspirin - as an antiplatelet agent.
• Ramipril - to improve hemodynamics.
• Digoxin - to increase heart rate.

Each of these drugs has its own indications and contraindications, and when prescribing them, it is important to take into account the general condition of the patient and the presence of concomitant diseases.

Disease monitoring

Monitoring of supravalvular aortic stenosis involves regular clinical observation and monitoring of cardiac status in patients with an established diagnosis. The main stages of monitoring include:

• Dynamic monitoring of symptoms.
• Regular echocardiographic examinations to assess the dynamics of stenosis.
• Consult a cardiologist if your condition worsens.

The prognosis of the disease depends greatly on the time of detection and initiation of treatment. Complications may include progressive heart failure, arrhythmias, and sudden cardiac death.

Age-related features of the disease

Supravalvular aortic stenosis has its own characteristics in different age groups. In newborns and children, the disease is often congenital, which can lead to pronounced symptoms already in childhood. In elderly patients, the stenosis process is often associated with mechanical changes and calcification of the valve, which causes a gradual deterioration in the condition. However, the approach to treatment, taking into account the general health condition and concomitant diseases, also differs between age groups.

Questions and Answers

• What are the main symptoms of supravalvular aortic stenosis? Symptoms typically include shortness of breath during exercise, a feeling of shortness of breath, dizziness, and chest pain.
• How is the disease diagnosed? Diagnosis is made based on clinical data, echocardiography and, in some cases, angiography.
• What are the treatments for supravalvular aortic stenosis? Treatment includes observation, drug therapy, surgery and, if necessary, valve transplantation.
• Who is at highest risk of developing the disease? The greatest risk is observed in older people, men, smokers, and patients with a history of cardiovascular disease.
• What is the prognosis for supravalvular aortic stenosis? The prognosis depends on the stage of the disease and timely treatment; in advanced cases, serious complications are possible, including heart failure.