Introduction
Williams-Beuren syndrome (WBS) is characterized by a combination of cardiovascular
malformations, typical dysmorphic stigmata, a moderate developmental delay and
behavioral abnormalities. According to the literature the incidence is within a
range from 1:20 000 to 1:7 500 (Yildiz O et al., World J Pediatr
Congenit Heart Surg 2015; 6: 311–316). Microdeletion of chromosome region
7q11.23 is pathognomonic, affecting the elastin gene (von Beust G et al., Klin
Padiatr 2000; 212: 299–307). Due to reduced elastin content elasticity in
the media of the arterial vessel wall is reduced, resulting in a vasculopathy
affecting preferentially the medium size and large arteries. As a characteristic
feature supravalvular aortic and pulmonary artery stenosis is very common in
patients with WBS. The supravalvular aortic stenosis may also affect the origin of
the coronary arteries resulting in an increased risk of myocardial ischemia (Collins
RT 2nd, Circulation 2013; 127: 2125–2134). We report the case of
a little boy with ischemic mitral regurgitation due to stenosis of the left main
coronary artery.
