ArticleBMC medical genetics2014
Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome.
Article in BMC medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 98 citations in OpenAlex.
- Oxidative Stress-Induced DNA Damage Response Pathways in Aortic Disease: Implications for Inflammation and Vascular Degeneration.International journal of molecular sciences · 2026Review
- Implications of monogenic bicuspid aortic valve (BAV) forms among sporadic BAV patients.European journal of human genetics : EJHG · 2025Article
- Identification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype-Phenotype Correlations.International journal of molecular sciences · 2024Article
- Valvulopathies and Genetics: Where are We?Reviews in cardiovascular medicine · 2024Review
- Genetic models of fibrillinopathies.Genetics · 2024Review
- Human Genetics of Semilunar Valve and Aortic Arch Anomalies.Advances in experimental medicine and biology · 2024Review
- TGFβ-2 haploinsufficiency causes early death in mice with Marfan syndrome.Matrix biology : journal of the International Society for Matrix Biology · 2023Article
- Implications of Bicuspid Aortic Valve Disease and Aortic Stenosis/Insufficiency as Risk Factors for Thoracic Aortic Aneurysm.Reviews in cardiovascular medicine · 2023Review
- Aortic Dilatation in Pediatric Patients with Bicuspid Aortic Valve: How the Choice of Nomograms May Change Prevalence.Diagnostics (Basel, Switzerland) · 2023Article
- Patients with Bicuspid Aortopathy and Aortic Dilatation.Journal of clinical medicine · 2022Review
- Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection.Diagnostics (Basel, Switzerland) · 2022Review
- Arterial Stiffness and Left Ventricular Myocardial Function in Children with a Well-Functioning Bicuspid Aortic Valve.Arquivos brasileiros de cardiologia · 2021Article
- Aortic root aortopathy in bicuspid aortic valve associated with high genetic risk.BMC cardiovascular disorders · 2021Article
- International Consensus Statement on Nomenclature and Classification of the Congenital Bicuspid Aortic Valve and Its Aortopathy, for Clinical, Surgical, Interventional and Research Purposes.Radiology. Cardiothoracic imaging · 2021Article
- Update in Biomolecular and Genetic Bases of Bicuspid Aortopathy.International journal of molecular sciences · 2021Review
- Review
- Expression Patterns of Circulating MicroRNAs in the Risk Stratification of Bicuspid Aortopathy.Journal of clinical medicine · 2020Article
- Defects in the Exocyst-Cilia Machinery Cause Bicuspid Aortic Valve Disease and Aortic Stenosis.Circulation · 2019Article
- Vascular Genetics: Presentations, Testing, and Prognostics.Current treatment options in cardiovascular medicine · 2018Review
- Enlightening the Association between Bicuspid Aortic Valve and Aortopathy.Journal of cardiovascular development and disease · 2018Review
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBicuspid aortic valve (BAV) is the most frequent congenital heart disease with frequent involvement in thoracic aortic dilatation, aneurysm and dissection. Although BAV and Marfan syndrome (MFS) share some clinical features, and some MFS patients with BAV display mutations in FBN1, the gene encoding fibrillin-1, the genetic background of isolated BAV is poorly defined.
methodsTen consecutive BAV patients [8 men, age range 24-42 years] without MFS were clinically characterized. BAV phenotype and function, together with evaluation of aortic morphology, were comprehensively assessed by Doppler echocardiography. Direct sequencing of each FBN1 exon with flanking intron sequences was performed on eight patients.
resultsWe detected three FBN1 mutations in two patients (aged 24 and 25 years) displaying aortic root aneurysm ≥50 mm and moderate aortic regurgitation. In particular, one patient had two mutations (p.Arg2726Trp and p.Arg636Gly) one of which has been previously associated with variable Marfanoid phenotypes. The other patient showed a pArg529Gln substitution reported to be associated with an incomplete MFS phenotype.
conclusionsThe present findings enlarge the clinical spectrum of isolated BAV to include patients with BAV without MFS who have involvement of FBN1 gene. These results underscore the importance of accurate phenotyping of BAV aortopathy and of clinical characterization of BAV patients, including investigation of systemic connective tissue manifestations and genetic testing.
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