supravalvularis

Supravalvular is a term used in medicine, particularly in cardiology, to describe a condition or anomaly located above a valve in the heart. Most commonly, it refers to supravalvular aortic stenosis, a congenital heart defect where the aorta is narrowed just above the aortic valve. This narrowing impedes the normal flow of blood from the left ventricle to the rest of the body.

This condition can be caused by genetic factors, such as mutations in specific genes like ELN, which is responsible for producing elastin, a key component of blood vessels. Supravalvular aortic stenosis can present in varying degrees of severity, from mild obstructions that may not cause significant symptoms to severe narrowing that leads to heart failure. Symptoms can include chest pain, shortness of breath, fatigue, and dizziness, especially during physical activity.

Diagnosis typically involves a physical examination that may reveal a heart murmur, followed by imaging techniques such as echocardiography, cardiac catheterization, or magnetic resonance imaging (MRI) to visualize the narrowed area and assess blood flow. Treatment options depend on the severity of the stenosis and may include medication to manage symptoms or surgical intervention to widen the narrowed section of the aorta. In some cases, a balloon valvuloplasty might be considered. A genetic component means that family screening may also be recommended.