A rare case of aortic stenosis in adulthood

Abstract

MOTS CLES Stenose A 52-year-old woman was referred for surgical treatment of a symptomatic aortic stenosis. Her medical history included unexplored mild mental retardation. Physical examination revealed high blood pressure (140/87 mmHg) with a systolic aortic 3/6 murmur and a distinctive facial appearance (spaced teeth, long philtrum and sunken nasal bridge), suggestive of Williams’s syndrome. Transthoracic echocardiography showed a calcified bicuspid aortic valve with mild insufficiency, a supravalvular aortic stenosis (SVAS) with a mean gradient of 78 mmHg and normal left ventricular systolic function (Fig. 1). Pulmonary stenosis, mitral involvement and ventricular septal defect were not found. A computed tomography scan confirmed SVAS (SVAS area, 1.35 cm2) (Fig. 2). There was no aortic coarctation. An angiogram showed a slight right coronary artery and blood analysis revealed normal calcaemia. The deletion of an elastin allele was subsequently found by fluorescence in situ hybridization and confirmed the 7q11.23 chromosomal microdeletion. A tight SVAS was found at the sinotubular junction after median sternotomy. The aortic valve