ArticleCirculation. Genomic and precision medicine2019
Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.
Article in Circulation. Genomic and precision medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 3 of them syntheses that pooled it.
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Who cites it
34 citing papers in PubMed, 3 syntheses or guidelines pooled it, 73 citations in OpenAlex.
- 2022 ACC/AHA guideline for the diagnosis and management of aortic disease: A report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.The Journal of thoracic and cardiovascular surgery · 2023Guideline
- 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.Journal of the American College of Cardiology · 2022Guideline
- Guideline
- Rare, Damaging DNA Variants inCirculation. Genomic and precision medicine · 2021Trial
- Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients.European journal of human genetics : EJHG · 2026Article
- Genome-First Approach to Rare and Common Variant Risk of Thoracic Aortic Aneurysm and Dissection.medRxiv : the preprint server for health sciences · 2025Article
- Predicting Thoracic Aortic Dissection in a Diverse Biobank Using a Polygenic Risk Score.JACC. Advances · 2025Article
- Mental Health Care for Children with Heart Disease and Their Families: Practical Approaches and Considerations for the Pediatric and Pediatric Cardiology Clinician.Pediatric cardiology · 2025Review
- Genetic factors and management strategies in aortic health: a literature review of inherited aortopathy.Annals of medicine and surgery (2012) · 2025Review
- Genetic insights from a Brazilian cohort of aortopathies through targeted next-generation sequencing and FBN1 direct sequencing.Scientific reports · 2024Article
- Practice Patterns and Barriers to Vascular Genetic Testing Among Vascular Surgeons.Annals of vascular surgery · 2024Article
- Using Genomics to Identify Novel Therapeutic Targets for Aortic Disease.Arteriosclerosis, thrombosis, and vascular biology · 2024Review
- Emerging role of radiogenomics in genetically triggered thoracic aortic aneurysm and dissection: a narrative review.Annals of translational medicine · 2023Review
- Familial Associations of Prevalence and Cause-Specific Mortality for Thoracic Aortic Disease and Bicuspid Aortic Valve in a Large-Population Database.Circulation · 2023Observational
- Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program.Nature genetics · 2023Article
- Thoracic aneurysm and dissection gene variants increase the risk of aortic-related adverse events in early-onset isolated Stanford type B aortic dissection after endovascular aortic repair.Journal of thoracic disease · 2023Article
- Genetics and mechanisms of thoracic aortic disease.Nature reviews. Cardiology · 2023Review
- Differences among sexes in presentation and outcomes in acute type A aortic dissection repair.The Journal of thoracic and cardiovascular surgery · 2023Article
- Precision Medicine and the future of Cardiovascular Diseases: A Clinically Oriented Comprehensive Review.Journal of clinical medicine · 2023Review
- The mechanism and therapy of aortic aneurysms.Signal transduction and targeted therapy · 2023Review
Corrections and comments
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Authors and funding
24 authors at 7 institutions in 3 countries.
Funding
Abstract
backgroundThoracic aortic dissection is an emergent life-threatening condition. Routine screening for genetic variants causing thoracic aortic dissection is not currently performed for patients or family members.
methodsWe performed whole exome sequencing of 240 patients with thoracic aortic dissection (n=235) or rupture (n=5) and 258 controls matched for age, sex, and ancestry. Blinded to case-control status, we annotated variants in 11 genes for pathogenicity.
resultsTwenty-four pathogenic variants in 6 genes (COL3A1, FBN1, LOX, PRKG1, SMAD3, and TGFBR2) were identified in 26 individuals, representing 10.8% of aortic cases and 0% of controls. Among dissection cases, we compared those with pathogenic variants to those without and found that pathogenic variant carriers had significantly earlier onset of dissection (41 versus 57 years), higher rates of root aneurysm (54% versus 30%), less hypertension (15% versus 57%), lower rates of smoking (19% versus 45%), and greater incidence of aortic disease in family members. Multivariable logistic regression showed that pathogenic variant carrier status was significantly associated with age <50 (odds ratio [OR], 5.5; 95% CI, 1.6-19.7), no history of hypertension (OR, 5.6; 95% CI, 1.4-22.3), and family history of aortic disease (mother: OR, 5.7; 95% CI, 1.4-22.3, siblings: OR, 5.1; 95% CI, 1.1-23.9, children: OR, 6.0; 95% CI, 1.4-26.7).
conclusionsClinical genetic testing of known hereditary thoracic aortic dissection genes should be considered in patients with a thoracic aortic dissection, followed by cascade screening of family members, especially in patients with age-of-onset <50 years, family history of thoracic aortic disease, and no history of hypertension.
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