ReviewJournal of cardiovascular translational research2011
Mitral valve disease in Marfan syndrome and related disorders.
Review in Journal of cardiovascular translational research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 54 citations in OpenAlex.
- Oral Health Status in Marfan Syndrome: A Systematic Review and Meta-Analysis of 353 Cases.International journal of environmental research and public health · 2022Pooled it
- The Role of Transforming Growth Factor-β Signaling in Myxomatous Mitral Valve Degeneration.Frontiers in cardiovascular medicine · 2022Pooled it
- AClinical case reports · 2025Article
- Unraveling a novel FBN1 variant in Marfan syndrome with dilated aortic root manifestation.BMC medical genomics · 2025Article
- Cardiac Complications in Marfan Syndrome: A Review.Cureus · 2022Review
- Cardiovascular manifestations in Marfan syndrome.Medicine and pharmacy reports · 2021Article
- Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Review
- Macrophage lineages in heart valve development and disease.Cardiovascular research · 2021Review
- Pathophysiology and Pathogenesis of Marfan Syndrome.Advances in experimental medicine and biology · 2021Review
- Connective Tissue Disorders and Cardiovascular Complications: The Indomitable Role of Transforming Growth Factor-β Signaling.Advances in experimental medicine and biology · 2021Article
- Cardiovascular Management of Adults with Marfan Syndrome.European cardiology · 2016Review
- Enlarged Dural Sac in Idiopathic Bronchiectasis Implicates Heritable Connective Tissue Gene Variants.Annals of the American Thoracic Society · 2016Article
- Mitral valve disease--morphology and mechanisms.Nature reviews. Cardiology · 2015Review
- Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' Collaboration.American heart journal · 2015Article
- Critical roles of miRNA-mediated regulation of TGFβ signalling during mouse cardiogenesis.Cardiovascular research · 2014Article
- Potential drug targets for calcific aortic valve disease.Nature reviews. Cardiology · 2014Review
- Connective tissue disorders and cardiovascular complications: the indomitable role of transforming growth factor-beta signaling.Advances in experimental medicine and biology · 2014Review
- Multi-scale biomechanical remodeling in aging and genetic mutant murine mitral valve leaflets: insights into Marfan syndrome.PloS one · 2012Article
- TargetedJournal of cardiovascular development and diseaseArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
Marfan syndrome (MFS) is a systemic disorder of the connective tissue with pleiotropic manifestations due to heterozygous FBN1 mutations and consequent upregulation of TGFβ signaling in affected tissues. Myxomatous thickening and elongation of the mitral valve (MV) leaflets commonly occur in this condition. Investigation of murine models of this disease has led to improved understanding of the mechanisms that underlie many of the phenotypic features of MFS, including MV disease. Loeys-Dietz syndrome (LDS) is a related disorder due to heterozygous mutations in the genes encoding subunits of the TGFβ receptor, and it may also involve the MV leaflets with similar elongation and thickening of the MV leaflets. Although the genetic basis and pathogenesis of nonsyndromic MV prolapse has been elusive to date, insights derived from monogenic disorders like MFS and LDS can be informative with regard to novel gene discovery and investigation into the pathogenesis of MV disease. This manuscript will review the prevalence of MV disease in MFS, its pathogenic basis as determined in mice with Fbn1 mutations, and ongoing studies that seek to better understand MV disease in the context of fibrillin-1 deficiency or excessive TGFβ signaling.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.