ArticleAmerican journal of medical genetics. Part A2010
FBN1 mutations in patients with descending thoracic aortic dissections.
Article in American journal of medical genetics. Part A, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.Nature genetics · 2011Pooled it
- Genotype/phenotype correlation in a patient with multiple abdominal and popliteal aneurysms.Journal of vascular surgery cases and innovative techniques · 2025Article
- Sensitivity to Aortic Rupture in Hereditary Aortic Diseases.Thrombosis and haemostasis · 2025Article
- Current understanding of the genetics of thoracic aortic disease.Vessel plus · 2024Article
- Asprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by theMolecular syndromology · 2022Review
- Rare Causes of Arterial Hypertension and Thoracic Aortic Aneurysms-A Case-Based Review.Diagnostics (Basel, Switzerland) · 2021Review
- Whole exome sequencing identifies FBN1 mutations in two patients with early‑onset type B aortic dissection.Molecular medicine reports · 2017Article
- Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.Clinical genetics · 2016Article
- Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.Scientific reports · 2015Article
- Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome.The application of clinical genetics · 2015Review
- Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.Human molecular genetics · 2014Article
- Pectus excavatum and heritable disorders of the connective tissue.Pediatric reports · 2013Review
- Acute aortic dissection (Stanford type B) during pregnancy.Journal of perinatology : official journal of the California Perinatal Association · 2013Article
- Current evidence and insights about genetics in thoracic aorta disease.TheScientificWorldJournal · 2013Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Aortic aneurysm and dissection cause significant morbidity and mortality. There are several known single gene disorders that predispose to isolated aortic disease and eventually aneurysm and dissection. FBN1 mutations are associated with multiple clinical phenotypes, including Marfan syndrome (MFS), MASS phenotype, and familial ectopia lentis, but rarely with isolated aortic aneurysm and dissection. In this report, we describe three patients who presented with primary descending thoracic aortic dissection and who were found to have an FBN1 mutation. None of the patients fulfilled clinical criteria for the diagnosis of MFS, and all had few or none of the skeletal features typical of the condition. Two patients had a history of long-term hypertension, and such a history was suspected in the third patient. These observations suggest that some individuals with FBN1 mutations have significant aortic disease involvement of other systems that is typical of FBN1 mutation-related syndromes. Superimposed risk factors, such as hypertension, may weaken the aortic wall and eventually lead to aortic dissection. Given that the cost continues to decrease, we suggest that diagnostic DNA sequencing for FBN1 mutations in patients with thoracic aortic aneurysms and dissection may be a practical clinical step in evaluating such patients and at-risk family members.
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