Supravalvar aortic stenosis: Imaging characteristics and associations on multidetector computed tomography angiography

Abstract

Aim To evaluate the imaging features and associations in patients with supravalvar aortic stenosis on multidetector computed tomography (CT) angiography. Materials and methods We retrospectively reviewed all CT angiography studies performed for evaluation of congenital heart diseases at our institution through the period from January 2014 to June 2020. Cases with supravalvar aortic stenosis were identified and classified as syndromic and nonsyndromic based on history, physical examination, and relevant investigations. The type and extent of vascular involvement and associated cardiovascular abnormalities were characterized. Results Supravalvar aortic stenosis was identified in 26/3926 (0.66%) patients (22 males and 4 females; Age range: 2 months to 20 years). Discrete stenosis was seen in 14/26 (53.8%) patients, while diffuse involvement of the ascending aorta to varying degrees was seen in the remaining 12 (46.2%) patients. About 15/26 (57.7%) patients had pulmonary involvement at some level, namely, infundibular, valvar, supravalvar, or peripheral pulmonic stenosis while 15/26 (57.7%) patients had coronary arterial involvement either in the form of stenosis, occlusion, or ectasia. Aortic valvular abnormality including thickening, partial fusion, and adhesion of leaflet edges to the sinutubular junction causing reduced coronary inflow was seen in 15/26 (57.7%) patients. Associated ventricular septal defect, patent ductus arteriosus, and mitral valvular prolapse were seen in four (15.4%), five (19.2%), and two (7.7%) patients respectively. Conclusion Supravalvar aortic stenosis is a rare abnormality showing associated pulmonary arterial involvement, coronary arterial involvement, aortic valvular abnormalities, and associated congenital cardiac defects in the majority of cases, which may influence surgical outcomes.

Diagnosis of membranous supravalvular aortic stenosis with severe aortic valve insufficiency

“…SVAS is typically attributed to potential genetic defects in the elastin gene 2 . Anatomically, SVAS manifests in three forms: discrete, diffuse, and membranous, with membranous SVAS being the rarest 3 . Despite distinctive clinical manifestations, diagnosing membranous SVAS remains challenging.…”

“…2 Anatomically, SVAS manifests in three forms: discrete, diffuse, and membranous, with membranous SVAS being the rarest. 3 After a thorough assessment of these diagnostic examinations, the patient was definitively diagnosed with membranous SVAS and severe aortic valve insufficiency. Subsequently, cardiothoracic surgeons recommended surgical intervention, and the patient underwent corrective surgery without encountering any complications.…”