Congenital supravalvular aortic stenosis (SVAS) is a rare stenotic lesion of the left ventricular out flow tract. The malformation consists a supravalvar narrowing at the aortic sinotubular junction. The underlying cause of the disease is a loss-of function mutation of the elastin gene.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the circulatory system
Structural developmental anomaly of heart or great vessels
LA8A Congenital anomaly of a ventriculo-arterial valve or adjacent regions
H00553 Congenital supravalvular aortic stenosis
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H00553 Congenital supravalvular aortic stenosis
