1. INTRODUCTION:Supravalvar aortic stenosis (SVAS) is the least common form of Left ventricular outflow tract obstructions (LVOTOs), which include subvalvular, valvular, and supravalvular variations, comprising approximately 2% of all cases. Primarily, it entails a distinct constriction of the aortic passage at the sinotubular junction (STJ). (1) SVAS is often associated with Williams-Beuren syndrome, though cases may also occur sporadically or within families. In conditions not associated to Williams-Beuren, it is advised to undergo genetic testing for elastin and initiate cascade screening within the family as it exhibits a notable genetic influence involving the elastin gene (7q11.2).(2). Herein, we present the case of a 15-year-old girl with SVAS who underwent double patch aortoplasty with bovine pericardium and remained symptomatically improved over a two-year follow-up.

Abstract Introduction The 9q22.3 microdeletion syndrome is a rare chromosomal disorder associated with developmental delays, congenital anomalies, and phenotypic overlap with Gorlin syndrome. Clinical variability complicates diagnosis, necessitating advanced genetic testing. Case Report A 13-month-old female presented with global developmental delay, macrocephaly (>97th percentile), and dysmorphic features, including frontal bossing, flat