Coarctation of the aorta as the presenting cardiovascular manifestation of Williams syndrome in an infant.

Abstract

Williams syndrome (WS) is a multisystem genetic disorder caused by a 7q11.23 microdeletion and is classically associated with supravalvular aortic stenosis (SVAS) and peripheral pulmonary artery stenosis. We report a male infant in whom discrete juxtaductal coarctation of the aorta (CoA) was incidentally detected during pre-operative evaluation for left inguinal hernia. Echocardiography demonstrated a peak gradient of 25 mm Hg without SVAS or branch pulmonary artery stenosis. Recognition of characteristic facial features prompted genomic evaluation, which confirmed a pathogenic 1.6 Mb 7q11.23 microdeletion. CoA is a recognised component of the cardiovascular spectrum of WS and may present early, including prenatally, even in the absence of SVAS. This case highlights the importance of considering WS in infants with coarctation and characteristic syndromic features and reinforces the need for longitudinal cardiovascular surveillance.