European heart journal. Cardiovascular Imaging · 2026
High diagnostic yield of family echocardiographic screening of children with bicuspid aortic valve.
СтатьяНазвание и аннотация: Перевод в очереди
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Norsk Jakob Boesgaard, Raja Anna Axelsson, Pærregaard Maria Munk, Dannesbo Sofie, Kock Thilde Olivia, Vøgg R Ottilia, Vejlstrup Niels, Iversen Kasper, Bundgaard Henning, Sillesen Anne-Sophie
Аннотация
AIMS: Bicuspid aortic valve (BAV) is present in 0.8% of newborns, with associated aortopathy in 33%. While the prevalence of BAV and associated aortopathy in first-degree relatives of symptomatic BAV patients ranges from 5 to 10% and 5 to 32%, data from unselected probands are limited. Uniform family screening guidelines are lacking. We aimed to determine the prevalence of BAV and aortopathy in first-degree relatives of children diagnosed neonatally with BAV.
METHODS AND RESULTS: In this case-control family study based on the Copenhagen Baby Heart Study (n > 25 000 newborns enrolled 2016-18), first-degree relatives of newborns with BAV (cases) or tricuspid aortic valve (controls) were examined with echocardiography. BAV was classified using Sievers and Schmidtke's system. Aortopathy was defined as aortic z-score ≥2 in children or exceeding reference values in adults. Controls were matched on index-child sex, maternal age, parity, and singleton/twin status.In total, 380 relatives of 131 probands and 210 relatives of 76 controls were included. BAV was diagnosed in 36 relatives (9.5%) in the case group vs. five (2.4%) in controls (P < 0.05). Isolated aortopathy was seen in 29 (7.6%) vs. seven (3.3%) relatives (P < 0.05), and aortic regurgitation (mild) in 32 (8.4%) vs. eight (3.8%) (P < 0.05). The total yield of BAV and/or aortopathy was 65 (17.1%) in the case group (42% of families) vs. 12 (5.7%) in controls (13% of families) (P < 0.001).
CONCLUSION: First-degree relatives of children with BAV exhibited a three-fold higher prevalence of BAV and/or aortopathy compared with controls, and a twelve-fold higher risk of BAV than the general population, supporting family screening.
TRIAL REGISTRATION: Clinicaltrials.gov identifier NCT02753348.
METHODS AND RESULTS: In this case-control family study based on the Copenhagen Baby Heart Study (n > 25 000 newborns enrolled 2016-18), first-degree relatives of newborns with BAV (cases) or tricuspid aortic valve (controls) were examined with echocardiography. BAV was classified using Sievers and Schmidtke's system. Aortopathy was defined as aortic z-score ≥2 in children or exceeding reference values in adults. Controls were matched on index-child sex, maternal age, parity, and singleton/twin status.In total, 380 relatives of 131 probands and 210 relatives of 76 controls were included. BAV was diagnosed in 36 relatives (9.5%) in the case group vs. five (2.4%) in controls (P < 0.05). Isolated aortopathy was seen in 29 (7.6%) vs. seven (3.3%) relatives (P < 0.05), and aortic regurgitation (mild) in 32 (8.4%) vs. eight (3.8%) (P < 0.05). The total yield of BAV and/or aortopathy was 65 (17.1%) in the case group (42% of families) vs. 12 (5.7%) in controls (13% of families) (P < 0.001).
CONCLUSION: First-degree relatives of children with BAV exhibited a three-fold higher prevalence of BAV and/or aortopathy compared with controls, and a twelve-fold higher risk of BAV than the general population, supporting family screening.
TRIAL REGISTRATION: Clinicaltrials.gov identifier NCT02753348.