Coarctation of the aorta as the presenting cardiovascular manifestation of Williams syndrome in an infant.
Ashwini K R, Chandrashekar C, Jagadishkumar K
✦ AI-curated · Sources linked
Case in brief
A male infant presented for pre-operative evaluation of a left inguinal hernia, during which discrete juxtaductal coarctation of the aorta was incidentally found. Echocardiography revealed a peak gradient of 25 mm Hg, with no evidence of supravalvular aortic stenosis or branch pulmonary artery stenosis. Genomic evaluation confirmed a pathogenic 1.6 Mb 7q11.23 microdeletion, consistent with Williams syndrome.
Diagnostic / clinical pearl
Clinicians should consider Williams syndrome in infants presenting with aortic coarctation, especially when characteristic facial features are observed.
Why it matters
This case underscores the need for ongoing cardiovascular monitoring in patients with Williams syndrome, as coarctation may occur without the typical associations.