Valvular & structural heart disease
Familial Associations of Prevalence and Cause-Specific Mortality for Thoracic Aortic Disease and Bicuspid Aortic Valve in a Large-Population Database
Authors' conclusion
Our results indicate that BAV and thoracic aortic disease carry a significant familial association for concordant disease and aortic dissection.
Study context
- Population
- Probands with bicuspid aortic valve (BAV), thoracic aortic aneurysm or dissection and their first-degree relatives, second-degree relatives and first cousins, Utah Population Database
- Participants
- 3,812,588 unique individuals
- Comparison
- Relatives of probands with BAV, thoracic aortic aneurysm or dissection vs relatives of matched controls
- Outcome
- Familial risk of a concordant diagnosis (BAV, thoracic aortic aneurysm or dissection)
Methodological detailsobservational, age- and sex-matched controls (10:1), population-based
- Observational
- Age- and sex-matched controls (10:1)
- Population-based
Main finding
As reported in the abstract
Concordant diagnosis
Each group vs controlsHazard ratio (95% CI)
First-degree relatives of BAV probands
6.88(5.62–8.43)
First-degree relatives of thoracic aortic aneurysm probands
5.09(3.80–6.82)
First-degree relatives of thoracic aortic dissection probands
4.15(3.25–5.31)
Observational data: associations, not effects.
Further findings
| Outcome | HR (95% CI) | |
|---|---|---|
| Aortic dissectionFirst-degree relatives of patients with BAVvs Controls | 3.63 (2.68–4.91) | |
| Aortic dissectionFirst-degree relatives of patients with thoracic aneurysmvs Controls | 3.89 (2.93–5.18) | |
| Aortic-specific mortalityFirst-degree relatives of patients with BAV, thoracic aneurysm, or aortic dissectionvs ControlsCompeting-risk model | 2.83 (2.44–3.29) | |
| 0.20.5125Hazard ratio (log scale) |
Aortic dissection, first-degree relatives of patients with both BAV and aneurysm
| HR (95% CI) | ||
|---|---|---|
| First-degree relatives of patients who carried a diagnosis of both BAV and aneurysmHighest dissection risk | 6.13 (2.82–13.33) | |
| 0.050.21520Hazard ratio (log scale) |
Original publication
Familial Associations of Prevalence and Cause-Specific Mortality for Thoracic Aortic Disease and Bicuspid Aortic Valve in a Large-Population Database. Circulation. Published 15 June 2023. doi:10.
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