| Title: | Predictors of thoracic aortic disease: Investigating dynamic interactions between genomic, clinical, and lifestyle risk factors. |
| Lead Institution: | University of Texas (UT Health) |
| Principal investigator: | Ms Alana Cecchi |
Application 75470
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About
Thoracic aortic aneurysms and dissections are life-threatening conditions associated with high morbidity and mortality. Risk factors such as hypertension, increasing age, male sex, bicuspid aortic valve disease, and lifestyle factors such as stimulant drug use, are associated with increased aortic dissection risk. However, these risk factors alone cannot predict the risk of aortic dissection precisely enough to justify increased screening or lifestyle modifications in the general population. Further, genetic variation is a major contributor to thoracic aortic disease and should be included in aortic disease risk prediction models. At present, the genetic cause of thoracic aortic disease can be identified in the majority of individuals with syndromic aortic disease, approximately 30% of patients with a family history of aortic disease and in 9% of patients with early-onset dissections and no family history ("sporadic"). Because up to 80% of thoracic aortic dissections are sporadic in nature, most people with aortic dissection do not know they are at increased. Currently, no tools incorporating genetic, clinical, environmental and lifestyle information are available to patients and providers to precisely stratify or estimate thoracic aortic dissection risk in the general population. This project aims to 1) Identify novel genes with increased burden of risk variants in thoracic aortic disease cases compared to controls, 2) Identify significant predictors of aortic dissection through analysis of interactions among demographic, clinical, imaging, environmental and genetic data, and 3) Incorporate these data into a risk prediction model that can be used to identify individuals who would benefit from increased aortic surveillance (imaging), medications, and lifestyle modifications to mitigate aortic dissection risk. We anticipate that this research will yield novel mechanistic insight into the drivers of thoracic aortic disease and enable patients and clinicians to adopt dissection prevention strategies earlier in life to reduce associated morbidity and mortality.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 15937 | Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing | David R. Murdock (+13) | 2025 | npj Genomic Medicine |
Enabling scientific discoveries that improve human health