More than coarctation: Williams syndrome with diffuse arteriopathy

Abstract

Williams syndrome is a rare multisystem genetic disorder caused by a microdeletion at chromosome 7q11.23 involving the elastin (ELN) gene. It commonly presents with cardiovascular abnormalities, developmental delay, connective tissue defects, and characteristic facial dysmorphism. We report a 9-month-old male infant with recurrent respiratory tract infections, developmental delay, and failure to thrive. Bronchoscopy showed mild tracheomalacia and bilateral bronchomalacia, and he had previously undergone right inguinal hernioplasty. On examination, characteristic dysmorphic facial features raised suspicion for Williams syndrome. Echocardiography revealed severe discrete coarctation of the aorta with concentric left ventricular hypertrophy and bilateral superior vena cava. During balloon coarctoplasty, right renal artery stenosis was identified, representing a rare vascular association. Genetic studies confirmed the diagnosis of Williams syndrome with deletion involving chromosome 7q11.23. This case highlights the importance of careful clinical evaluation and genetic confirmation in children with syndromic facies and vascular anomalies for early diagnosis and appropriate multidisciplinary management of Williams syndrome.