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Supravalvular aortic stenosis (SVAS)

Supravalvular aortic stenosis (SVAS)



Overview

SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.

Symptoms

Shortness of breath, especially during physical activity or exercise.

Chest pain or angina caused by reduced blood flow to the heart muscle.

Heart murmur, an abnormal sound heard through a stethoscope when a doctor listens to the heartbeat.

Heart failure in severe cases where the heart struggles to pump enough blood.Dizziness or fainting (syncope) during exertion

.No symptoms at all

Causes

Williams Syndrome: This is the most common syndromic cause, resulting from a microdeletion on chromosome  that encompasses both the ELN gene and neighboring genes.

Familial / Nonsyndromic SVAS: Mutations or autosomal dominant microdeletions isolated strictly to the ELN gene can be inherited independently without full Williams syndrome features. 

Elastin Deficit: ELN mutations lower tropoelastin production, creating thinner elastic fibers in the aortic wall.

Smooth Muscle Compensation: Smooth muscle cells multiply to compensate for weak elasticity, thickening and narrowing the vessel lumen

Familial Hypercholesterolemia: Can exceptionally lead to acquired localized supravalvular narrowing.Inflammation or Infection: Rare non-congenital pathologies or post-surgical scarring can occasionally mimic the lesion. 

Diagnosis

Echocardiography: Serves as the primary non-invasive test to identify the structural narrowing, measure gradients using Doppler, and assess heart function.

Cardiac MRI or CT Angiography: Provides detailed, high-resolution anatomical views of the entire aorta, the arch, and associated vascular anomalies. 

Cardiac Catheterization: Used when non-invasive tests are unclear to precisely measure pressure gradients and evaluate coronary artery status

Treatment

Regular Monitoring: Mild cases with no symptoms are closely watched by a cardiologist using regular echocardiograms.

Symptom Evaluation: Doctors track pressure gradients using cardiac imaging; surgery is typically recommended if the measured gradient exceeds 30 mmHg or if symptoms appear.

Patch Aortoplasty: Surgeons open the narrowed area of the aorta and sew in a patch (using autologous pericardium or synthetic material like Dacron) to enlarge the lumen. Doty Repair: A two-patch, pantaloons-shaped enlargement technique used to widen the sinotubular junction and aortic root. 

Brom Aortoplasty: A multi-patch technique utilizing three patches to reconstruct each aortic sinus and restore normal aortic root geometry. 

Type of Doctor Department : A pediatric cardiologist

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