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Familial Prevalence and Mortality Risks of Thoracic Aortic Disease and BAV
Quick Takes
- Using the UTDB (a very large data set containing genealogical, residential, and medical and administrative data for most individuals who ever resided in Utah), there was a higher risk of a concordant diagnosis in first-degree relatives of approximately 7-fold for bicuspid aortic valve (BAV), 5-fold for thoracic aortic aneurysm, and 4-fold for thoracic aortic dissection.
- There was a 3- to 4-fold higher risk of aortic dissection in first-degree relatives of patients with BAV or thoracic aortic aneurysm.
- There was a 2.8-fold higher risk of aortic-specific mortality in first-degree relatives of patients with BAV, thoracic aneurysm, or aortic dissection, with a smaller effect in second-degree relatives and in first cousins.
Study Questions:
What are the familial risks and the cardiovascular and aortic-specific mortality risks of thoracic aortic disease and bicuspid aortic valve (BAV)?
Methods:
The Utah Population Database (UTDB) is a very large data set containing genealogical, residential, and medical and administrative data for most individuals who ever resided in Utah. This observational case-control study used the UTDB to identify probands with a diagnosis of BAV, thoracic aortic aneurysm, or thoracic aortic dissection, and age- and sex-matched controls (10:1 ratio) for each proband. First-degree relatives, second-degree relatives, and first cousins of probands and controls were identified through linked genealogical information. Cox proportional hazard models were used to quantify the familial associations for each diagnosis. A competing-risk model was used to determine the risk of cardiovascular-specific and aortic-specific mortality for relatives of probands.
Results:
The study population included 3,812,588 unique individuals. Familial hazard risk of a concordant diagnosis was elevated in the following populations compared with controls: first-degree relatives of patients with BAV (hazard ratio [HR], 6.88; 95% confidence interval [CI], 5.62-8.43); first-degree relatives of patients with thoracic aortic aneurysm (HR, 5.09; 95% CI, 3.80-6.82), and first-degree relatives of patients with thoracic aortic dissection (HR, 4.15; 95% CI, 3.25-5.31). In addition, the risk of aortic dissection compared to controls was higher in first-degree relatives of patients with BAV (HR, 3.63; 95% CI, 2.68-4.91) and in first-degree relatives of patients with thoracic aneurysm (HR, 3.89; 95% CI, 2.93-5.18). Dissection risk was highest in first-degree relatives of patients who carried a diagnosis of both BAV and aneurysm (HR, 6.13; 95% CI, 2.82-13.33). First-degree relatives of patients with BAV, thoracic aneurysm, or aortic dissection had a higher risk of aortic-specific mortality (HR, 2.83; 95% CI, 2.44-3.29) compared with controls, with a smaller effect in second-degree relatives and first cousins.
Conclusions:
BAV and thoracic aortic disease carry a significant familial association for concordant disease and for aortic dissection in a pattern that is consistent with a genetic cause of disease, and a higher risk of aortic-specific mortality was observed in relatives of individuals with these diagnoses. The authors conclude that this study provides supportive evidence for screening relatives of patients with BAV, thoracic aneurysm, or dissection.
Perspective:
Thoracic aortic disease and BAV both are known to have heritable influences, and first-degree relatives of patients with BAV can be at risk of aortopathy even in the absence of BAV. This very large population-based study found a higher risk of a concordant diagnosis in first-degree relatives of approximately 7-fold for BAV, 5-fold for thoracic aortic aneurysm, and 4-fold for thoracic aortic dissection; a 3- to 4-fold higher risk of aortic dissection in first-degree relatives of patients with BAV or thoracic aortic aneurysm; and a 2.8-fold higher risk of aortic-specific mortality in first-degree relatives of patients with BAV, thoracic aneurysm, or aortic dissection (with a smaller effect in second-degree relatives and in first cousins). Although the study likely was affected by ascertainment bias (with more aggressive screening in relatives of patients compared to the general population) and is limited by the Utah-based population (with a higher proportion of White patients and nonsmokers), it provides data that could support broader screening of more relatives of patients with BAV, aortic aneurysm, or aortic dissection.
Clinical Topics: Cardiac Surgery, Cardiovascular Care Team, Congenital Heart Disease and Pediatric Cardiology, Prevention, Valvular Heart Disease, Vascular Medicine, Aortic Surgery, Cardiac Surgery and Arrhythmias, Cardiac Surgery and CHD and Pediatrics, Cardiac Surgery and VHD, Congenital Heart Disease, CHD and Pediatrics and Arrhythmias, CHD and Pediatrics and Prevention, CHD and Pediatrics and Quality Improvement
Keywords: Aneurysm, Dissecting, Aortic Aneurysm, Aortic Aneurysm, Thoracic, Bicuspid Aortic Valve Disease, Diagnostic Tests, Routine, Family, Genealogy and Heraldry, Heart Valve Diseases, Risk Assessment, Secondary Prevention, Vascular Diseases
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