Valvular & structural heart disease
High diagnostic yield of family echocardiographic screening of children with bicuspid aortic valve
Authors' 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.
Study context
- Population
- First-degree relatives of newborns diagnosed neonatally with bicuspid aortic valve (BAV) (cases) or tricuspid aortic valve (controls), Copenhagen Baby Heart Study, newborns enrolled 2016–18380 relatives of 131 probands and 210 relatives of 76 controls
- Participants
- 380 vs 210
- Comparison
- First-degree relatives of newborns with BAV vs relatives of newborns with tricuspid aortic valve, examined with echocardiography
- Case groupn = 380
- Controlsn = 210
- Outcome
- BAV diagnosed in relatives
Methodological detailsbased on the Copenhagen Baby Heart Study, matched on index-child sex, maternal age, parity, and singleton/twin status
- Based on the Copenhagen Baby Heart Study
- Matched on index-child sex, maternal age, parity, and singleton/twin status
Main finding
As reported in the abstract
Observational data: associations, not effects.
Further findings
Isolated aortopathy
Aortic regurgitation (mild)
Total yield of BAV and/or aortopathy
Families case group 42% of families · controls 13% of families
- Isolated aortopathy: P < 0.05
- Aortic regurgitation (mild): P < 0.05
- Total yield of BAV and/or aortopathy: P < 0.001
Original publication
High diagnostic yield of family echocardiographic screening of children with bicuspid aortic valve. Eur Heart J Cardiovasc Imaging. Published 14 October 2025. doi:10.
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