{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T22:37:08Z","timestamp":1789425428731,"version":"build-2803163510"},"reference-count":39,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T00:00:00Z","timestamp":1760400000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100007405","name":"Danish Heart Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007405","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100018781","name":"Danish Children\u2019s Heart Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018781","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005860","name":"Helsefonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005860","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Herlev-Gentofte Hospital Research Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,3,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>In this case\u2013control family study based on the Copenhagen Baby Heart Study (n &amp;gt; 25 000 newborns enrolled 2016\u201318), first-degree relatives of newborns with BAV (cases) or tricuspid aortic valve (controls) were examined with echocardiography. BAV was classified using Sievers and Schmidtke\u2019s system. Aortopathy was defined as aortic z-score \u22652 in children or exceeding reference values in adults. Controls were matched on index-child sex, maternal age, parity, and singleton\/twin status.<\/jats:p>\n                    <jats:p>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 &amp;lt; 0.05). Isolated aortopathy was seen in 29 (7.6%) vs. seven (3.3%) relatives (P &amp;lt; 0.05), and aortic regurgitation (mild) in 32 (8.4%) vs. eight (3.8%) (P &amp;lt; 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 &amp;lt; 0.001).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Trial registration<\/jats:title>\n                    <jats:p>Clinicaltrials.gov identifier NCT02753348<\/jats:p>\n                  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