Supravalvular Aortic Stenosis
Type: Symptom
Definition
A narrowing of the large blood vessel that carries blood from the heart to the rest of the body.
Clinical Details
The loss of the ELN gene means the body cannot produce adequate elastin, a protein essential for the elasticity of blood vessel walls. The aorta becomes thick, stiff, and abnormally narrow just above the aortic valve, forcing the heart to work dangerously hard.