Authors: Peter Olejník 1,2; David Pavlák 3; Erika Kucharovicová 1,2; Michaela Lapšová 1; Tereza Šoltésová 1,2 Authors‘ workplace: Detské kardiocentrum, Národný ústav srdcových a cievnych chorôb a. s., Bratislava 1; Klinika detskej kardiológie, Lekárska fakulta, Univerzita Komenského, Bratislava 2; II. gynekologicko-pôrodnícka klinika, Slovenská zdravotnícka univerzita, Fakultná nemocnica s poliklinikou F. D. Roosevelta, Banská Bystrica 3 Published in: Čes-slov Pediat 2026; 81 (2): 98-103. Category: Original Papers doi: https://doi.org/10.55095/CSPediatrie2025/060
Olejník P, Pavlák D, Kucharovicová E, Lapšová M, Šoltésová T. Cardiovascular aspects of Williams-Beuren syndrome
Williams–Beuren syndrome (WBS) is a multisystem genetic disorder caused by a microdeletion at 7q11.23 involving the ELN gene for elastin, which plays a key role in the development of cardiovascular lesions. These represent the main cause of morbidity and mortality in affected individuals. We retrospectively analyzed 20 patients with genetically confirmed WBS who were followed or examined at the Pediatric Cardiac Center in Bratislava – the national referral center for children with cardiovascular disease – between 2012 and 2022 (mean follow-up duration 4.7 years). In this cohort, we assessed the incidence of individual cardiovascular findings, their natural history, the need for interventions, and overall survival. A limitation of our analysis is the selected population of patients referred to our center, which may lead to an overestimation of the prevalence of cardiac lesions. Cardiac involvement was present in 85% of patients in our selected cohort. The most frequent abnormalities included SVAS (65%), pulmonary artery stenosis (50%), coarctation of the aorta (15%), and ostial coronary artery stenosis (10%). An intervention was required in 65% of our patients. The most common surgical procedure was Myer‘s interdigitation, performed in 54% of patients with SVAS, with a satisfactory reduction in peak gradient. All patients with aortic coarctation underwent surgical resection. One child underwent coronary artery ostioplasty at a foreign center. Balloon angioplasty of the pulmonary artery was performed in 30% of patients with pulmonary stenosis, but with limited effect. In most children, spontaneous improvement of findings was observed due to growth of the pulmonary arteries In conclusion, hemodynamically significant SVAS and coarctation of the aorta can be effectively treated with cardiac surgery in the majority of patients. Given the natural growth potential of the pulmonary arteries, catheter-based angioplasty is generally not indicated.
Elastin – supravalvular aortic stenosis – Williams–Beuren syndrome – pulmonary artery stenosis – aortic coarctation – ostial coronary artery stenosis
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