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Severe Mitral Valve Regurgitation due to Significant Coronary Artery Stenosis in a 14-month-old boy with Williams-Beuren Syndrome.

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.