Bicuspid aortic valve as the mark of connective tissue disorders

Relevance. The bicuspid aortic valve (BAV) can be combined with genetic developmental syndromes, but the pediatric aspects of the problem have not been adequately studied. Goal. Determine the frequency of BAV from the data of the ultrasound examination rooms (ultrasound) and characterize the clinical and echocardiographic aspects of the bicuspid aortic valve. Material and methods. 19 patients with BAV (17 children and 2 adults) were examined. To evaluate the possible long-term consequences of BAV, 45 adults were examined: men 25 (mean age 61.72 ± 1.42 years), women 20 (mean age 64.9 ± 1.46 years). Results. The frequency of BAV according to the ultrasound examination rooms is 1 case per 20 000-23 500 studies. BAV was combined with genetic syndromes of connective tissue dysplasia (hypermobility syndromes of joints, Marfan, FreemanSheldon, etc.), registered in twins. The average value of the eccentricity index of the BAV leaflets was 3.5, the standard deviation was 1.1, the standard error was 0.274. In adult patients with BAV, calcification of the valves was observed, which was not detected in the control group (p = 0.006). Conclusion. BAV can be both an accidental finding, and be combined with another pathology. BAV is more often found in people with hereditary developmental syndromes. The presence of BAV requires the exclusion of genetic developmental syndromes. Despite the comparative rarity of BAV in the general population, a remote prognosis may be serious, which requires the pediatrician to organize interdisciplinary interaction