ArticleAmerican journal of medical genetics. Part A2011
Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms.
Article in American journal of medical genetics. Part A, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 50 citations in OpenAlex.
- Prevalence of Intracranial Aneurysm in Patients with Aortopathy: A Systematic Review with Meta-Analyses.Journal of stroke · 2020Pooled it
- Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.Journal of the American Heart Association · 2018Pooled it
- Co-produced evidence-based recommendations for cascade screening and secondary prevention in the relatives of people diagnosed with non-syndromic thoracic aortic disease.Frontiers in cardiovascular medicine · 2026Article
- Genetic and epigenetic architectures of stroke: Insights from GWAS to precision medicine.Neurochemistry international · 2025Review
- Review
- Family history as the strongest predictor of aortic and peripheral aneurysms in patients with intracranial aneurysms.Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia · 2024Article
- Prevalence of Intracranial Aneurysm in Patients With Aortic Disease in Korea: A Nationwide Population-Based Study.Journal of the American Heart Association · 2021Article
- Association of Intracranial Aneurysms With Aortic Aneurysms in 125 Patients With Fusiform and 4253 Patients With Saccular Intracranial Aneurysms and Their Family Members and Population Controls.Journal of the American Heart Association · 2019Article
- Prevalence of Intracranial Aneurysms in Patients with Aortic Dissection.AJNR. American journal of neuroradiology · 2017Article
- Molecular targets in aortic aneurysm for establishing novel management paradigms.Journal of thoracic disease · 2017Review
- Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.Scientific reports · 2017Article
- Acute Aortic Syndromes: Update in Current Medical Management.Current treatment options in cardiovascular medicine · 2017Review
- Genetic and Epigenetic Regulation of Aortic Aneurysms.BioMed research international · 2017Review
- A 54-year-old man with 12 intracranial aneurysms and familial subarachnoid hemorrhage: case report.Neurosurgical review · 2016Article
- Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.Journal of the American Heart Association · 2016Article
- Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections.Trends in cardiovascular medicine · 2014Review
- Factors affecting formation and rupture of intracranial saccular aneurysms.Neurosurgical review · 2014Review
- Genes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice.Aorta (Stamford, Conn.) · 2013Article
- A combined proteomic and transcriptomic approach shows diverging molecular mechanisms in thoracic aortic aneurysm development in patients with tricuspid- and bicuspid aortic valve.Molecular & cellular proteomics : MCP · 2013Article
- Genes in thoracic aortic aneurysms/dissections - do they matter?Annals of cardiothoracic surgery · 2013Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
Abstract
A genetic predisposition for thoracic aortic aneurysms and dissections (TAAD) can be inherited in an autosomal dominant manner with decreased penetrance and variable expression. Four genes identified to date for familial TAAD account for approximately 20% of the heritable predisposition. In a cohort of 514 families with two or more members with presumed autosomal dominant TAAD, 48 (9.3%) families have one or more members who were at 50% risk to inherit the presumptive gene causing TAAD had an intracranial vascular event. In these families, gender is significantly associated with disease presentation (P < 0.001), with intracranial events being more common in women (65.4%) while TAAD events occurred more in men (64.2%,). Twenty-nine of these families had intracranial aneurysms (ICA) that could not be designated as saccular or fusiform due to incomplete data. TGFBR1, TGFBR2, and ACTA2 mutations were found in 4 families with TAAD and predominantly fusiform ICAs. In 15 families, of which 14 tested negative for 3 known TAAD genes, 17 family members who were at risk for inheriting TAAD had saccular ICAs. In 2 families, women who harbored the genetic mutation causing TAAD had ICAs. In 2 additional families, intracranial, thoracic and abdominal aortic aneurysms were observed. This study documents the autosomal dominant inheritance of TAADs with saccular ICAs, a previously recognized association that has not been adequately characterized as heritable. In these families, routine cerebral and aortic imaging for at risk members could prevent cerebral hemorrhages and aortic dissections.
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