Severe arterial hypertension, a silent complication of Williams–Beuren syndrome: A case report with literature review

Abstract

Williams-Beuren syndrome is a rare chromosomal microdeletion (7q11.23) associated with psychomotor delay, a characteristic dysmorphic profile, neurocognitive disorders, and, especially, an increased risk of cardiovascular and renal complications leading to hypertension. We report a case of severe hypertensive emergency in a child with this syndrome. Our patient is a 7-year-old boy who presented with headaches, morning projectile vomiting, and polyuria over the past month. On admission, the blood pressure was 180/120 mmHg, and the cardiovascular examination revealed no cardiac or vascular murmurs. The physical examination revealed a distinctive facial phenotype suggestive of Williams-Beuren syndrome. The biological assessment showed normal renal function without electrolyte abnormalities. The abdominal ultrasound showed kidneys of normal size, and the renal Doppler revealed bilateral stenosis of the proximal renal arteries. The thoraco-abdominal angioscanner identified severe stenoses of the bilateral renal arteries at the ostial and postostial levels. The echocardiography revealed left ventricular hypertrophy without aortic stenosis. Angioplasty with dilation of both arteries was performed, with good clinical progress, and the patient was discharged on 2 antihypertensives. Arterial hypertension is a classic complication of Williams-Beuren syndrome, secondary to renal artery stenosis or supravalvular aortic stenosis. It may present with neurological manifestations (headaches, vomiting) or urinary symptoms. The diagnosis is based on vascular imaging and nephrological monitoring. This case highlights the importance of systematic blood pressure screening and nephrocardiological monitoring in children with Williams-Beuren syndrome. Early identification and proper treatment of hypertension can avert enduring cardiovascular and renal complications.